JIMD Podcasts
Journal of Inherited Metabolic Disease
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A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.
Available episodes
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6 days ago
Gene therapy in Glycogen Storage Disorders
Dr Dwight Koeberl joins the podcast to provide some background to gene therapies in Glycogen Storage Disorders, hi-light some ongoing studies and explain why we owe at least some of our knowledge to a menagerie of animal models.
Gene therapy for glycogen storage diseases
Dwight D. Koeberl, et al
https://doi.org/10.1002/jimd.12654
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Nov 17, 2023
Shortcast: Screening data for 19 patients with late-onset Pompe disease for a phase I clinical trial
Dr Will Heath describes insights form screening data derived from 19 patients enrolled in a phase 1 study in late-onset Pompe disease.
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy
William B. Hannah, et al
https://doi.org/10.1002/jmd2.12391
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Nov 10, 2023
CAD deficiency: Beyond the genetics
In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain.
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Francisco del Caño-Ochoa, et al
https://doi.org/10.1002/jimd.12667
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Nov 7, 2023
Shortcast: Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Dr Kaustuv Bhattacharya explains the insights of his team into the diagnosis and management of a cohort of children with McArdle Syndrome and challenges some of the conceptions around this disease.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Louisa Adams, et al
https://doi.org/10.1002/jmd2.12389
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Nov 3, 2023
Shortcast: PIGO-CDG: A case study, phenotypic expansion, lit review, and nosological considerations
Dr Rodrigo Starosta describes the management of a challenging presentation of PIGO-CDG and discusses insights into this rare GPI-anchor disorder.
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations
Rodrigo Tzovenos Starosta, et al
https://doi.org/10.1002/jmd2.12396
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Oct 27, 2023
Comorbidity in acute porphyria
It's a 2-for-1 podcast as Dr Mattias Lissing of the Karolinska Institute joins us to discuss two recent papers looking at cancer risk, comorbidity and mortality in the acute porphyrias.
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals
Mattias Lissing, et al
https://doi.org/10.1002/jimd.12583
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients
Mattias Lissing, et al
https://doi.org/10.1002/jimd.12676
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Oct 23, 2023
Metabolic Mysteries: Post-partum ataxia and confusion
Dr Markey McNutt of UT South Western describes a patient presenting with post-partum ataxia and confusion and just when you think you know the answer there's an extra mystery at the end.
Read the paper here:
https://doi.org/10.1002/jmd2.12388
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Oct 19, 2023
Shortcast: A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD
Dr Claire Horgan discusses the first year of offering gene therapy to patients with metachromatic leukodystrophy (MLD) in the UK. When given in a timely fashion the impact is incredible but large numbers of children remain ineligible for treatment.
A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead
Claire Horgan, et al
https://doi.org/10.1002/jmd2.12378
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Oct 13, 2023
An oral enzyme therapy for MSUD
In this podcast, Dr Kristen Skvorak discusses the development and testing of a new oral enzyme for the treatment of Maple Syrup Urine Disease.
Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates
Kristen Skvorak, et al
https://doi.org/10.1002/jimd.12662
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Oct 9, 2023
Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model
Enzyme Replacement Therapy (ERT) has changed the course of several lysosomal storage disorders but regular, intravenous administration is not without its issues. In this latest Shortcast, Dr Paulina Dabrowska-Schlepp describes her group's work to develop subcutaneous ERT for Fabry Disease.
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Paulina Dabrowska-Schlepp, et al
https://doi.org/10.1002/jmd2.12393
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Oct 5, 2023
Metabolic Mysteries: A child with dystonia and MRI changes
Dr Luisa Averdunk of the University Children's Hospital in Düsseldorf discusses the investigation of a 2-year-old presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities. Will you unravel this metabolic mystery before all is revealed?
See the associated image and read the full report here:
https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12680
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Sep 29, 2023
Fetal gene therapy
In our latest podcast we welcome Simon Waddington, Professor in Gene Transfer Technology at the EGA Institute for Women's Health. Professor Waddington discusses the development of fetal gene therapy and why it might be desirable to deliver gene therapy to the unborn child.
Fetal gene therapy
Simon N. Waddington, et al
https://doi.org/10.1002/jimd.12659
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Sep 23, 2023
Shortcast: Interstitial lung disease and pancreatic exocrine insufficiency in CADDS
Dr Oliver Heath describes a new patient with CADDS who developed pancreatic exocrine deficiency and interstitial lung disease.
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review
Oliver Heath, et al
https://doi.org/10.1002/jmd2.12390
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Sep 15, 2023
SSIEM 2022 special episode
Professor Ute Spiekerkoetter co-hosts a special episode of the podcast, compiled to accompany the SSIEM 2022 themed issue from September 2023 and look back on a wonderful meeting hosted in Freiburg the year before.
This episode features three different papers and you jump straight to these at the following locations:
6 min 25 sec: Dr Carla Hollak, Noa Rosenburg and Nina Stolwijk discuss public-private partnerships in drug development
27 min 10 sec: Professor Martina Huemer explains how we should all be using patient reported outcome measures in our work
37 min 16 sec: Kiera Batten explains the role of exercise and exercise prescription in inherited metabolic disease
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships
Noa Rosenberg, et al
https://doi.org/10.1002/jimd.12605
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism
Martina Hueme…
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Sep 1, 2023
Gene therapy in urea cycle disorders: a historical perspective and future prospects
Dr Julien Baruteau joins the podcast to look back at the history of gene therapy research in Urea Cycle Disorders, and discuss the future of genomic therapies in this group of conditions with a high unmet need.
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects
Claire Duff, et al
https://doi.org/10.1002/jimd.12609
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Aug 18, 2023
Possible substrate reduction therapy in disorders of valine and isoleucine metabolism
Dr Sander Houten of the Icahn School of Medicine returns to the podcast to explain his work exploring opportunities for substrate reduction therapy in disorders of valine and isoleucine metabolism.
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
Sander M. Houten, et al
https://doi.org/10.1002/jimd.12642
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Aug 11, 2023
Shortcast: Prolonged respiratory failure treatment in isolated homocysteine remethylation defects
In a 'short' Shortcast, Dr Julien Baruteau introduces his Report of two infantile-onset cases of remethylation defects and their response to treatment.
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
Abigail Whitehouse, et al
https://doi.org/10.1002/jmd2.12375
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Aug 4, 2023
A clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
Dr Itay Latzer, from Boston Children's Hospital, joins the podcast to discuss the development and utility of a clinical severity scoring system in the ultra-rare disease SSADHD.
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, et al
https://doi.org/10.1002/jimd.12635
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Jul 28, 2023
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era.
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
Jessie Poquérusse, et al
https://doi.org/10.1002/jmd2.12360
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Jul 21, 2023
Pregnancy in acute porphyria
Dr Daphne Vassiliou joins the podcast to discuss past concerns about pregnancy in porphyria and how more data has reassured regarding safety and hi-lighted areas for increased vigilance.
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study
Ängla Mantel, et al
https://doi.org/10.1002/jimd.12616
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Jul 7, 2023
Gene therapies in mucopolysaccharidoses
Nicola Brunetti-Pierri of the Telethon Institute of Genetics and Medicine joins the podcast to discuss his recent review looking at the various gene therapy approaches in the mucopolysaccharidoses along with their strengths and limitations.
Gene therapies for mucopolysaccharidoses
Alessandro Rossi and Nicola Brunetti-Pierri
https://doi.org/10.1002/jimd.12626
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Jun 30, 2023
Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
Dr Isabelle Adant follows up on a recent review on ATP7A with the case of a neonate presenting with occipital horn syndrome.
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
Isabelle Adant, et al
https://doi.org/10.1002/jimd.12621
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Jun 23, 2023
Racial diversity and the S135L variant in galactosemia
Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Quinton S. Katler, et al
https://doi.org/10.1002/jimd.12556
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
Stettner et al
https://doi.org/10.1016/j.ymgme.2023.107542
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Jun 19, 2023
Shortcast: Increased prevalence of Parkinson's disease in alkaptonuria
Professor Ranganath discusses his observations around the increased incidence of Parkinson's disease in Alkaptonuria and shares his thoughts on the possible pathophysiology.
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Jun 14, 2023
Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene
Professor Jayesh Sheth discusses two patients diagnosed with MLD following milder presentations, both related to novel missense variants in the PSAP gene.
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India
Jayesh Sheth, et al
https://doi.org/10.1002/jmd2.12374
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Jun 9, 2023
Gene therapy in a mouse model of MSUD
Dr Manuel Schiff and Dr Clément Pontoizeau join us for the first JIMD Podcast on Maple Syrup Urine Disease, hi-lighting their recent successes treating a Bckdhb knock-out mouse model using gene therapy.
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy
Clément Pontoizeau, et al
https://doi.org/10.1002/jimd.12604
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May 26, 2023
Key terms and definitions In porphyria
Professor Sverre Sandberg joins the podcast to discuss recent work looking to establish key terms and definitions in the acute porphyrias, and explains how this will ultimately help bring forward treatment and research.
EPNet website: http://porphyria.eu
Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network
Penelope E. Stein, et al
https://doi.org/10.1002/jimd.12612
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May 12, 2023
PGM1-CDG: isoforms, phenotyping and gene therapy
Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy.
The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation?
Silvia Radenkovic, et al
https://doi.org/10.1002/jimd.12601
Interested listeners may want to read gene therapy paper discussed herein:
https://doi.org/10.1016/j.trsl.2023.01.004
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Apr 28, 2023
A novel UHPLC/HRAM MS approach in LSD screening
Dr Marne Hagemeijer joins the podcast to explain how mass spectrometry could simplify the approach to screening urine samples for evidence of Lysosomal Storage Disorders.
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
Marne C. Hagemeijer, et al
https://doi.org/10.1002/jimd.12597
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Apr 21, 2023
Shortcast: Early treatment of neonatal diabetes with oral glibenclamide in extreme prematurity
Professor Michel Polak reports success using a specialist preparation of oral glibenclamide in the management of neonatal diabetes in an extreme preterm infant subsequently found to have a KCNJ11 gene variant.
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant
Alfonso Galderisi, et al
https://doi.org/10.1002/jmd2.12358
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Apr 14, 2023
Cholestasis, oxysterols and clinical conundrums
Dr Irene Chang and Dr An Dang Do explain how an infant presenting with cholestasis and liver disease kept them guessing, and how the abnormal biochemical findings gave them new insights into other conditions.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
An N. Dang Do, et al
https://doi.org/10.1002/jimd.12595
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Apr 4, 2023
Shortcast: The remarkable journey of one female individual with OTC deficiency diagnosed post-mortem
Dr RaeLynn Forsyth describes a pioneering patient who contributed to the evolution and understanding or Urea Cycle Disorder treatments throughout her life.
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem
RaeLynn Forsyth, et al
https://doi.org/10.1002/jmd2.12361
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Mar 31, 2023
Fractionated plasma N-glycan profiling and ATP6AP1 - CDG
Dr Hana Alharbi, Dr Earnest James Paul Daniel, and Dr Andrew C. Edmondson join the podcast to talk about ATP6AP1-CDG and the potential for fractionated plasma N-glycan profiling.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, et al
https://doi.org/10.1002/jimd.12589
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Mar 29, 2023
Shortcast: Autonomic instability, arrhythmia & visual impairment in MTFMT related mito disease
Dr Caoimhe Howard presents her teams' report of a young boy with MTFMT-related mitochondrial disease.
Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease
Caoimhe Howard, et al
https://doi.org/10.1002/jmd2.12355
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Mar 17, 2023
B vitamins, drosophila and TANGO2-deficiency disorder
This podcast, and the first paper, are dedicated to the memory of Dr. Nassim Shahrzad, an accomplished scientist with a bright future who was taken from her family, friends and colleagues much too soon. May the memory of her warm smile, collegial nature and devotion to her family serve as a source of comfort and inspiration to all those who knew her.
In this podcast we return to TANGO2-deficiency disorder to hear from Dr Michael Sacher, Dr Christina Miyake and Dr Samuel Mackenzie, on how research in a drosophila disease model correlates with insights from natural history studies on the role for B-complex vitamins in TDD.
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells
Paria Asadi, et al
https://doi.org/10.1002/jimd.12579
B-complex vitamins for patients with TANGO2-deficiency disorder
Sarah E. Sandkuhler, et al
https://doi.org/10.1002/jimd.12585
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Mar 16, 2023
Shortcast: Paracetamol toxicity in classic HCU: Effect of N-acetylcysteine on total homocysteine
Dr Nour Elkhateeb describes his group's experience managing a patient with homocystinuria who developed paracetamol toxicity and was subsequently treated with N-acetylcysteine.
Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine
Nour Elkhateeb, et al
https://doi.org/10.1002/jmd2.12363
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Mar 3, 2023
The complex machinery of cobalamin
Dr Sean Froese returns to the podcast alongside Professor Wyatt Yue to discuss cobalamin, crystallography and consuming raw liver.
The complex machinery of human cobalamin metabolism
Thomas J. McCorvie, et al
https://doi.org/10.1002/jimd.12593
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Feb 28, 2023
Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases
Merel Post discusses her group's work to describe 6 individuals with MOGS-CDG and the utility of a tetrasaccharide biomarker for confirming diagnosis and possibly for treatment monitoring in future.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases
Merel A. Post, et al
https://doi.org/10.1002/jimd.12588
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Feb 17, 2023
How guidelines drive research and research influences guidelines
Dr Patrick Forny and Dr Nikolas Boy join the podcast to discuss their recent paper that considers how guideline development feeds into research targets and how new research is integrated into guidelines.
How guideline development has informed clinical research for organic acidurias (et vice versa)
Patrick Forny, et al
https://doi.org/10.1002/jimd.12586
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Feb 10, 2023
Shortcast: Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency
Dr Ruqaiah Altassan describes the successful heart transplantation in a child with PGM1-CDG.
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
Ruqaiah Altassan, et al
https://doi.org/10.1002/jmd2.12350
You may also be interested in:
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG).
Balakrishnan et al
https://www.sciencedirect.com/science/article/abs/pii/S193152442300004X?via%3Dihub
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Feb 7, 2023
Shortcast: First decade anniversary of the United Kingdom National Alkaptonuria Centre
Dr Milad Khedr, Dr Nick Sireau and Professor Ranganath discuss a decade of success for the UK National Alkaptonuria Centre and how close integration with the AKU Society works to provide better care for all patients.
First decade anniversary of the United Kingdom National Alkaptonuria Centre
Milad Khedr, et al
https://doi.org/10.1002/jmd2.12340
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Feb 3, 2023
Cellular Insights and Computational Modelling In MMA
Dr Sean Froese and Dr Charlotte Ramon join the podcast to discuss the different hypotheses around cellular damage in MMA, and new insights obtained through cellular and computational models.
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria
Charlotte Ramon, et al
https://doi.org/10.1002/jimd.12575
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Jan 20, 2023
Novel therapy in a propionic acidemia mouse model
Dr Suzanne Jackowski shares the fruits of a career looking at Co-enzyme A and the results of recent work looking at a promising molecule in a propionic acidemia mouse model.
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia
Chitra Subramanian, et al
https://doi.org/10.1002/jimd.12570
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Jan 17, 2023
Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD
Dr Richard Steet discusses his group's recent work describing compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 leading to GM3 synthase deficiency.
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency
Natasha Rudy, et al
https://doi.org/10.1002/jmd2.12353
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Jan 12, 2023
Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis
Ashley Hertzog returns to the shortcast to discuss how ascertainment bias may hinder the assessment of clinical phenotype in patients with 3-Methylglutaconyl-CoA hydratase deficiency.
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, et al
https://doi.org/10.1002/jmd2.12332
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Jan 6, 2023
Priority Setting Partnership in Mitochondrial Disease
In a bumper episode, Professor Shamima Rahman helps to host Dr Rhys Thomas, Lyndsey Butterworth, Dr Amy Hunter and Russell Wheeler in a discussion around the recent Priority Setting Partnership in Primary Mitochondrial Disease.
Research priorities for mitochondrial disorders: Current landscape and patient and professional views
Rhys H. Thomas, et al
https://doi.org/10.1002/jimd.12521
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Dec 28, 2022
Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid
Dr Spyros Batzios describes a patient diagnosed with hyperphosphatasia with mental retardation syndrome 3 (also known as Mabry Syndrome) and reports on novel findings of CSF abnormalities and response to treatment with pyridoxine and folinic acid.
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid
Martina Messina, et al
https://doi.org/10.1002/jmd2.12347
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Dec 23, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: 3rd revision
Dr Nikolas Boy joins the podcast to discuss the recently published third revision of the guidelines for the diagnosis and management of Glutaric Aciduria Type 1. Dr Boy explains what has changed, what has stayed the same, and why these changes have happened.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Nikolas Boy, et al
https://doi.org/10.1002/jimd.12566
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Dec 9, 2022
Diagnostics, EXPLORE B and POWER in Porphyria
Kristen Wheeden of the United Porphyrias Association joins as podcast co-host to ask David Cassiman, Pieter Vermeersch and Amy Dickey about improving diagnostics in porphyria and the outcomes of the EXPLORE B and POWER surveys exploring quality of life.
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias
Stefanie Lefever, et al
https://doi.org/10.1002/jimd.12545
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms
David Cassiman, et al
https://doi.org/10.1002/jimd.12551
Quantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study
Amy Dickey, et al
https://doi.org/10.1002/jmd2.12343
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Nov 29, 2022
Shortcast: Isolated neurological presentations of mevalonate kinase deficiency
Dr Eva Hoytema van Konijnenburg describes the case of a patient with mevalonate kinase deficiency presenting solely with neurological symptoms and without an inflammatory component.
Isolated neurological presentations of mevalonate kinase deficiency
Eva Hoytema van Konijnenburg, et al https://doi.org/10.1002/jmd2.12348
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Nov 25, 2022
Novel CSF biomarkers in GLUT1 deficiency syndrome
Tessa Peters and Dr Leticia Pías-Peleteiro join the podcast to discuss GLUT1 deficiency syndrome and recent insights around the potential for new biomarkers.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
Tessa M. A. Peters, et al
https://doi.org/10.1002/jimd.12554
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Nov 21, 2022
Shortcast: Management of pregnancy in a patient with LCHADD
Jenny McNulty describes the management of a successful pregnancy in a woman with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD).
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
Loai A. Shakerdi, et al
https://doi.org/10.1002/jmd2.12284
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Nov 14, 2022
Shortcast: Infantile-onset Pompe disease with neutropenia
Dr Mary Riedy discuss an infant with infantile-onset Pompe disease and the challenges of an unusual neutropenia phenotype.
Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype
Mary Riedy, et al
https://doi.org/10.1002/jmd2.12337
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Nov 11, 2022
Sex Specific Screening in X-linked Adrenoleucodystrophy
Dr Stephan Kemp returns to the podcast to discuss the recent pilot for sex-specific newborn screen for X-linked adrenoleucodystrophy in the Netherlands. The discussion includes the screening pathway, the decision to make it sex specific and a review of the pilot findings.
Sex-specific newborn screening for X-linked adrenoleukodystrophy
Monique Albersen, et al
https://doi.org/10.1002/jimd.12571
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Nov 8, 2022
Shortcast: Direct replacement of oral benzoate with glycerol phenylbutyrate in children with UCD
Dr Mildrid Yeo discusses a single centre's experience of transitioning UCD children from Sodium benzoate to glycerol phenylbutyrate.
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders
Mildrid Yeo, et al
https://doi.org/10.1002/jmd2.12274
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Oct 28, 2022
Everyone's talking about empagliflozin
Maria Veiga-da-Cunha, Claudia Soler-Alfonso and Sarah Grünert join the podcast to talk about Empagliflozin, a repurposed drug with impressive efficacy in GSD 1b and G6PC3 deficiency.
Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5
Cécile Boulanger, et al
https://doi.org/10.1002/jimd.12509
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment
Eran Tallis, et al
https://doi.org/10.1002/jmd2.12304
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib
Sarah Catharina Grünert, et al
https://doi.org/10.1002/jmd2.12295
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Oct 21, 2022
Shortcast: GA 1: Diagnosis, clinical features & long-term outcome in a cohort of 34 Irish patients
Lydia Healy, Meabh O'Shea and Professor Ahmad Ardeshir Monavari report the Irish experience with GA1, both before and after the introduction of new born screening for the condition.
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients
Lydia Healy, et al
https://doi.org/10.1002/jmd2.12302
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Oct 18, 2022
Shortcast: Use of Elamipretide in patients assigned treatment in the compassionate use program
Dr Mary Kay Koenig describes the use of elamipretide in three children with different mitochondrial disorders. Her group's work provides dosing parameters for the use of elamipretide in patients <12 years of age with mitochondrial diseases caused by pathogenic variants that impair membrane phospholipid remodelling.
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
Mary Kay Koenig, et al
https://doi.org/10.1002/jmd2.12335
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Oct 14, 2022
Genomic Therapies In IMD: Lessons from MMA
In this podcast, Dr Chuck Venditti of the National Human Genome Research Institute, discusses his passion for MMA, the role of screening and the mechanisms behind different types of genomic therapy.
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia
Leah E. Venturoni and Charles P. Venditti
https://doi.org/10.1002/jimd.12534
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Oct 12, 2022
Shortcast: Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
Transcription (RNA) of the genes that regulate the heme-synthesis pathway in the liver is modified in a patient with acute intermittent porphyria.
Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
Jordi To-Figueras, et al
https://doi.org/10.1002/jmd2.12329
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Oct 10, 2022
Shortcast: Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III
Chiel de Bode explains that orofacial abnormalities are present in all types of mucopolysaccharidosis, mucolipidosis II, and III, and therefore evaluation of orofacial health should be part of routine clinical care in these patients.
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
Chiel J. de Bode, et al
https://doi.org/10.1002/jmd2.12331
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Sep 30, 2022
Moving towards management guidelines in ALG8 - CDG
Dr Daniah Albokhari and Dr Andrew Edmondson speak to the podcast about 7 new patients with ALG8-CDG and discuss how their knowledge of the condition helps formulate clinical guidance in this ultra-rare disease.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Daniah Albokhari, et al
https://doi.org/10.1002/jimd.12527
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Sep 27, 2022
Shortcast: Alternative sources of valine and isoleucine for prompt leucine reduction in MSUD
Maryam Ziadlou presents her work documenting an alternative approach to achieving good metabolic control in a case series of MSUD patients.
Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series
Maryam Ziadlou, and Anita MacDonald
https://doi.org/10.1002/jmd2.12327
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Sep 23, 2022
Shortcast: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria
In this Shortcast, Dr Arthavan Selvanathan of the Queensland Lifespan Metabolic Medicine Service, discusses his team's work: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
Arthavan Selvanathan, et al
https://doi.org/10.1002/jmd2.12318
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Sep 16, 2022
Eye movement disorders in Inherited Metabolic Disease
Dr Lisette Koens joins the podcast to discuss her work that seeks to address some of the knowledge gaps that exist around eye movement disorders in late onset IMD.
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Lisette H. Koens, et al
https://doi.org/10.1002/jimd.12533
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Sep 15, 2022
Shortcast: The prevalence of inherited metabolic disorders in the Estonian population over 30 years
Dr Katrin Õunap presents her group's recent work, the prevalence of inherited metabolic disorders in the Estonian population over 30 years: A significant increase during the study period.
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period
Elis Tiivoja, et al
https://doi.org/10.1002/jmd2.12325
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Sep 8, 2022
Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
Dr Shanti Balasubramaniam and her team report a further case of a pathogenic, heterozygous, de novo variant in CTBP1 and discusses muscle biopsy findings in this disorder.
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
Wui-Kwan Wong, et al
https://doi.org/10.1002/jmd2.12326
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Sep 2, 2022
The doxycycline paradox in mitochondrial disease
Expanding on their recent editorial, Shamima Rahman, Eva Morava and Tamas Kozicz discuss the doxycycline paradox and why a medication previously thought to be toxic might present an avenue for treatment in some primary mitochondrial disorders.
The doxycycline paradox in primary mitochondrial diseases
Tamas Kozicz, Shamima Rahman, and Eva Morava
https://doi.org/10.1002/jimd.12531
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Aug 26, 2022
Training in Adult Metabolic Medicine
Dr Sandra Sirrs returns to the podcast to discuss her work developing training competencies for adult metabolic medicine.
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians
Sandra Sirrs, et al
https://doi.org/10.1002/jmd2.12312
The right tool for the job—Fit for purpose training programs in adult metabolic medicine
Annalisa Sechi, et al
https://doi.org/10.1002/jimd.12511
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Aug 22, 2022
Shortcast: A cross-sectional natural history study of aspartylglucosaminuria
Dr Kimberly Goodspeed discusses a diverse group of patients with the rare lysosomal storage disorder, aspartylglucosaminuria, a condition most commonly seen amongst Finnish patients.
A cross-sectional natural history study of aspartylglucosaminuria
Kimberly Goodspeed, et al
https://doi.org/10.1002/jmd2.12294
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Aug 19, 2022
Diagnosis and Discovery: Insights from the Undiagnosed Diseases Program
Dr Thomas Cassini and Dr Carolina Montano from the NIH's Undiagnosed Diseases Program explain how they work to end the diagnostic journey for patients with undiagnosed conditions.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Carolina Montano, et al
https://doi.org/10.1002/jimd.12506
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Aug 12, 2022
Future Therapies in Galactosaemia
The podcast welcomes Professor Maria Estela Rubio-Gozalbo and welcomes back Professor Judy Fridovich-Keil to talk mRNA therapy, gene therapy and disease models in classic galactosemia.
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia
Britt Delnoy, et al
https://doi.org/10.1002/jimd.12512
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia
Jennifer M. I. Daenzer, et al
https://doi.org/10.1002/jimd.12471
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Aug 5, 2022
Mitochondrial Trifunctional Protein Deficiency
In this episode, Dr Gepke Visser, Dr Sacha Ferdinandusse and (soon to be Dr) Marit Schwantje discuss the Netherlands' experience of disorders of MTP activity detected on newborn screening. They also shed light on late-presenting disease phenotypes related to thermo-sensitivity.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
Marit Schwantje, et al
https://doi.org/10.1002/jimd.12502
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Marit Schwantje, et al
https://doi.org/10.1002/jimd.12503
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Jul 29, 2022
Reproductive Genetic Carrier Screening in IMD
Edwin Kirk from the the Australian Reproductive Genetic Carrier Screening Project, discusses the challenges of implementing screening both prior to and during pregnancy.
Edwin would like to acknowledge the many international experts who have helped with variant classification, particularly in relation to the PMM2 variant mentioned in the podcast, and in particular would like to thank Belén Pérez and her team for their generosity in performing the functional assays.
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
Edwin P. Kirk, Martin B. Delatycki, Nigel Laing
https://doi.org/10.1002/jimd.12505
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Jul 22, 2022
Glitazones in X-linked adrenoleukodystrophy
Dr Pierre-Axel Monternier discusses his group's work looking at a modified form of the drug pioglitazone to treat X-linked adrenaleukodystrophy.
Therapeutic potential of deuterium-stabilized (R)-pioglitazone—PXL065—for X-linked adrenoleukodystrophy
Pierre-Axel Monternier, et al
https://doi.org/10.1002/jimd.12510
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Jul 15, 2022
Betaine in early onset MTHFR Deficiency
Professor Manuel Schiff joins podcast host James Nurse to discuss a recent study looking at the successful use of Betaine in the management of early-onset MTHFR deficiency.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
Mathilde Yverneau, et al (2022)
https://doi.org/10.1002/jimd.12504
Interested listeners may also want to read:
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Martina Huemer, et al (2016)
https://doi.org/10.1007/s10545-016-9991-4
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Jul 13, 2022
Shortcast: Clinical spectrum of early onset “Mediterranean” MNGIE
Dr Sema Kalkan Uçar returns to the shortcast to present a cohort of 15 patients with MNGIE disease, including 9 with the p.P131L (c.392 C > T), or “Mediterranean” variant.
Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Sema Kalkan Uçar, et al
https://doi.org/10.1002/jmd2.12315
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Jul 1, 2022
Gls2 knockdown - a different approach for Urea Cycle Disorders?
Dr Xiping Cheng joins podcast host James Nurse to explain her group's work exploring how glutaminase 2 knockdown could provide an alternative approach to management in Urea Cycle Disorders.
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model
Xia Mao, et al
https://doi.org/10.1002/jimd.12474
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Jun 21, 2022
Shortcast: Glycogen storage disease type IIIa in pregnant women
A team effort as Demi Beneru, Michel Tchan and Kate Billmore explain how they successfully supported a mother with GSD IIIa during her pregnancy.
Glycogen storage disease type IIIa in pregnant women: A guide to management
Demi Beneru, Michel C. Tchan, Kate Billmore, Roshini Nayyar
https://doi.org/10.1002/jmd2.12282
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Jun 17, 2022
Lost in translation — Challenges in drug development for rare disease
Robin Lachmann and Marc Patterson return to the podcast and are joined by their collaborator Dr Sandra Sirrs, to talk about their recent Editorial on drug development in rare disease.
Lost in translation—Challenges in drug development for inherited metabolic diseases
Robin H. Lachmann, Marc C. Patterson, and Sandra Sirrs
https://doi.org/10.1002/jimd.12501
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Jun 3, 2022
Machine learning in newborn screening
Elaine Zaunseder and Dr Ulrike Mütze join the podcast to discuss the role of machine learning in newborn screening and why this is something clinicians need to know about.
Opportunities and challenges in machine learning-based newborn screening—A systematic literature review
Elaine Zaunseder, et al
https://doi.org/10.1002/jmd2.12285
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May 20, 2022
Barth Syndrome (part 2): Screening, modelling and more
The second half of our Barth Syndrome special issue tie in podcast features guest presenter Erik Lontok of the Barth Syndrome Foundation. The podcast looks at the work of Fred Vaz, Bill Pu, Jan Dudek, Christophe Maack and Adam Chicco, all of whom are working to advance our knowledge of Barth Syndrome.
Skip to specific papers at the timing below:
Dr Fred Vaz, from 2 minutes
Dr Bill Pu, from 14 minutes
Dr Christophe Macao and Dr Jan Dudek, from 21:45
Dr Adam Chicco, from 31 minutes, 50 seconds.
Featured papers:
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
Frédéric M. Vaz, et al
https://doi.org/10.1002/jimd.12425
Experimental models of Barth syndrome
William T. Pu
https://doi.org/10.1002/jimd.12423
Mechano-energetic aspects of Barth syndrome
Jan Dudek & Christoph Maack
https://doi.org/10.1002/jimd.12427
Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiop…
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May 20, 2022
Barth Syndrome (part 1): Disease overview and future treatments
In the first of two podcast intended to complement the January 2022 special issue, Dr Hilary Vernon joins the podcast to discuss the clinical presentation and natural history of Barth Syndrome and explore current and future treatments.
Clinical presentation and natural history of Barth Syndrome: An overview
Carolyn Taylor, et al
https://doi.org/10.1002/jimd.12422
Current and future treatment approaches for Barth syndrome
Reid Thompson, et al
https://doi.org/10.1002/jimd.12453
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May 16, 2022
CDG or not CDG
In honour of CDG Awareness Day, Dr Hudson Freeze and Dr Jaak Jaeken revisit a discussion from the Scientific CDG Symposium 2021, considering what makes a Congenital Disorder of Glycosylation.
CDG or not CDG
Hudson H. Freeze, Jaak Jaeken and Gert Matthijs
https://doi.org/10.1002/jimd.12498
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May 10, 2022
Shortcast: High penetrance and recurrent attacks in a family with hereditary coproporphyria
Dr Cindy Towns presents seven cases of HCP from a single family with a novel mutation who have exhibited an unusually high penetrance and high rates of severe, recurrent attacks.
High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria
Cindy Towns, et al
https://doi.org/10.1002/jmd2.12281
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May 6, 2022
Dentistry in Inherited Metabolic Disease
Inherited Metabolic Diseases may have both a direct and indirect on dentition resulting on a number of challenges for parents, carers, clinicians and dentists when it comes to managing this. Dr Lorna Hirst and Dr Anupam Chakrapani join the podcast to explain what some of these issues are and why dentists should not be intimidated by IMD patients.
Inborn errors of metabolism and their impact in paediatric dentistry
Lorna Hirst, Anupam Chakrapani, Suhaym Mubeen
https://doi.org/10.1002/jimd.12493
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May 2, 2022
Shortcast: Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort
Dr David Olsson discusses the Swedish experience following the introduction of newborn screening for VLCAD deficiency.
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics
David Olsson, et al
https://doi.org/10.1002/jmd2.12268
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Apr 28, 2022
Shortcast: A serendipitous journey to a promoter variant in OTC
Ashley Hertzog discusses the identification of an unexpected promoter variant as a cause of late-onset OTC deficiency.
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency
Ashley Hertzog, et al
https://doi.org/10.1002/jmd2.12289
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Apr 22, 2022
NGLY1 deficiency & epilepsy
Dr Rebecca Levy of the Lucile Packard Children's Hospital in Stanford, joins the podcast to discuss her recent work looking at epilepsy in NGLY1 deficiency.
Delineating the epilepsy phenotype of NGLY1 deficiency
Rebecca J. Levy, et al
https://doi.org/10.1002/jimd.12494
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Apr 8, 2022
Molybdenum Cofactor Deficiency
Dr Ronen Spiegel and Dr Bernd Schwahn join the podcast to discuss their natural history study in Molybdenum cofactor deficiency and the promise of treatment with cPMP for individuals with MoCD-A.
Molybdenum cofactor deficiency: A natural history
Ronen Spiegel, et al
https://doi.org/10.1002/jimd.12488
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Apr 5, 2022
Shortcast: Chondroitin sulfate disaccharide as a biomarker for MPS IVA
Dr Maria Fuller explains the clinical utility of the biomarker Chondrotin sulfate disaccharide in the diagnosis of MPSIVA.
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA
Sharon J. Chin, et al
https://doi.org/10.1002/jmd2.12132
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Apr 1, 2022
Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency
Dr Kristin Ørstavik explains her team's observations of three patients with a novel mutation in the HADHB gene leading to a mild form of FTP deficiency.
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kristin Ørstavik, et al
https://doi.org/10.1002/jmd2.12276
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Mar 25, 2022
Treatment In Alkaptonuria
Professor Ranganath returns to the podcast and is joined by Dr Nick Sireau to discuss the SONIA 2 study, getting the Nitisinone dose right and how we should manage alkaptonuria in children.
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling
Lakshminarayan R. Ranganath, et al
https://doi.org/10.1002/jmd2.12261
Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria
Birgitta Olsson, et al
https://doi.org/10.1002/jmd2.12255
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Mar 15, 2022
Shortcast: Acute and early developmental outcomes of children with Duarte galactosemia
Professor Judy Fridovich-Keil discusses her work looking at acute and developmental outcomes in infants and young children with Duarte galactosemia.
Acute and early developmental outcomes of children with Duarte galactosemia
Judith L. Fridovich-Keil, et al
https://doi.org/10.1002/jmd2.12267
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Mar 11, 2022
Arginase Deficiency
Dr George Diaz and Dr Spyros Batzios join the podcast to discuss a slight more unusual UCD, Arginase deficiency. They discuss the clinical features of the condition, the current management and a promising new therapy.
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
Nandaki Keshavan, et al
https://doi.org/10.1002/jmd2.12266
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency
George A. Diaz, et al
https://doi.org/10.1002/jimd.12343
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Mar 4, 2022
Shortcast: Two siblings with galactose mutarotase deficiency: Clinical differences
Dr Sema Kalkan Uçar discusses her observations around two siblings with galactose mutarotase deficiency. Available open access at the link below.
Two siblings with galactose mutarotase deficiency: Clinical differences
Havva Yazici, et al
https://doi.org/10.1002/jmd2.12263
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Feb 25, 2022
AAV-gene therapy in galactosemia patient fibroblasts
Dr Megan Brophy and Dr Bob Bell join the podcast to talk about their recent work looking at AAV gene therapy in fibroblasts from patients with classic galactosemia. We discuss new insights into disease physiology and consider the challenges of scaling gene therapy towards in vivo model.
AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts
Megan L. Brophy, et al
https://doi.org/10.1002/jimd.12468
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Feb 11, 2022
Unravelling the Secrets Of PMM2-CDG
Vicente Rubio, Belén Pérez, Santiago Ramón-Maiques join the podcast to discuss their recent work analysing the crystal structure of PMM2 and the insights this provides towards developing new treatments.
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures
Alvaro Briso-Montiano, et al
https://doi.org/10.1002/jimd.12461
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Jan 27, 2022
Transplant Outcomes in X-ALD
Dr Ashish Gupta and Dr Rene Pierpont of the University of Minnesota discuss their work looking at neurocognitive outcomes after transplant in childhood cerebral adrenoleukodystrophy.
Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy
Ashish O. Gupta, et al
https://doi.org/10.1002/jimd.12435
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Jan 14, 2022
Positive Negatives - genistein and resveratrol
The first podcast of 2022 discusses two papers with negative outcomes and explores the importance of sharing such results for patients and families and clinicians working with rare disease. Dr Nicoline Løkken discusses her work with resveratrol in mitochondrial myopathies (from 5m 18s) and Dr Arunabha Ghosh and Professor Brian Bigger talk about the use of genistein in Sanfilippo syndrome (from 10m 38s).
No effect of resveratrol in patients with mitochondrial myopathy: A cross-over randomized controlled trial
Nicoline Løkken, et al
https://doi.org/10.1002/jimd.12393
High dose genistein in Sanfilippo syndrome: A randomised controlled trial
Arunabha Ghosh, et al
https://doi.org/10.1002/jimd.12407
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Dec 31, 2021
100 Years Of IMD (in Austria)
Dr Gabriele Ramoser, Dr Federica Caferri, Dr Sabine Scholl-Bürgi and Dr Daniela Karall joined the podcast to discuss their recent work looking at the Austrian "Registry for Inherited Metabolic Disorders". We spoke about the importance of patient registries, variable prevalence rates and the difficulties around where to care for adults with IMD.
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021
Gabriele Ramoser, et al
https://doi.org/10.1002/jimd.12442
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Dec 17, 2021
Mitochondrial Disease Special Issue: Novel Therapies
In March 2021 our special issue look at all aspects of Mitochondrial Disease. In this special episode Professor Shamima Rahman guest hosts as we welcome David Dimmock, Mike Lawlor, Guilhian Leipnitz and Marc Patterson to discuss their papers from that issue, looking at novel therapies in mitochondrial disease.
For those skipping: DGUOK (from 3min 30sec), SO deficiency (from 19min) and Friedreich's Ataxia (29min 10sec).
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats
Vanden Avond, et al
https://doi.org/10.1002/jimd.12354
The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats
Glänzel, et al
https://doi.org/10.1002/jimd.12310
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study
Qureshi, et al
https://doi.org/10.1002/jimd.12285
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Dec 3, 2021
Organoids in IMD
Associate Professor Sabine Fuchs and PhD Candidate Vivian Lehmann join the podcast to explain cholangiocyte organoids and the role they play in understanding rare disease and testing new treatments.
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Vivian Lehmann, et al
https://doi.org/10.1002/jimd.12450
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Nov 4, 2021
Easy as ABC...D3
The podcast is joined by the wonderful Dr Sander Houten and Dr Pablo Ranea-Robles who explain their recent working looking at the ATP binding cassette ABCD3 in dicarboxylic fatty acid metabolism.
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis
Pablo Ranea-Robles et al
https://doi.org/10.1002/jimd.12440
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Nov 4, 2021
MPS 1: Where are we now?
Dr Sandra Kingma from the Centre for Rare Diseases in Antwerp joins the podcast to discuss all things Mucopolysaccharidosis type I. Her recent paper asks 'where are we now?' and I asked her about where we are going next?
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Sandra D. K. Kingma, An I. Jonckheere,
First published: 03 September 2021 https://doi.org/10.1002/jimd.12431
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Oct 22, 2021
Assembling the treatment puzzle in Niemann Pick C
Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C. Recent studies have shown the efficacy of Miglustat and Arimoclomal but they may end up forming just part of the puzzle being built to manage this condition.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment
Eugen Mengel, et al
https://doi.org/10.1002/jimd.12428
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study
Marc C. Patterson, et al
https://doi.org/10.1002/jimd.12245
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Oct 8, 2021
McArdle disease - expanding the clinical phenotype
Dr Chiara Pizzamiglio of the Department of Neuromuscular Diseases at Queen Square discusses her recent publication looking at a huge cohort of 197 patients with McArdle disease. Dr Pizzamiglio hi-lights the diagnostic challenges in this GSD and shows new insights into the spectrum of extra-muscular manifestations seen in the condition.
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study
Chiara Pizzamiglio et al
https://doi.org/10.1002/jimd.12438
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Sep 27, 2021
Gene Therapy in CBS Deficiency
Professor Warren Kruger of the Fox Chase Cancer Centre in Philadelphia joins the podcast to talk about homocystinuria, successful trials in gene therapy, why it costs so much to make viruses and what inspires him.
Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy
Hyung-Ok Lee et al
https://doi.org/10.1002/jimd.12437
Interested listeners may also wish to look at:
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A. M. Morris, et al
https://doi.org/10.1007/s10545-016-9979-0
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Sep 10, 2021
Cognitive and psychosocial outcomes in early-treated PKU
Dr Elaine Murphy and Dr Robin Lachmann of the Charles Dent Metabolic Unit, look after over 400 adults with PKU. They join the podcast to discuss their recent work on long-term outcomes in early-treated Phenylketonuria and to hi-light some of their more interesting findings.
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria
Lynne Aitkenhead et al
https://doi.org/10.1002/jimd.12413
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Aug 6, 2021
Disease Or Disorder: New Insights in Valine Degradation
In the latest podcast we've returning guest Professor Thorsten Marquardt and his colleague Dr Jörn Oliver Sass talking about their work with 3-Hydroxyisobutyrate dehydrogenase deficiency. Thorsten reports their success in using a low valine diet for an affected patient and Oliver discusses the challenge of differentiating disorder metabolism from disease.
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism
Melanie Meyer et al
https://doi.org/10.1002/jimd.12410
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Jul 22, 2021
Inborn Errors of the Malate Aspartate Shuttle
Melissa Broeks speaks with the podcast about her recent paper reviewing disorders of the malate aspartate shuttle, an essential pathway supporting respiratory chain activity. Melissa provides a wonderful overview of the background and clinical significance of the MAS, all of which can be explored further in her #openaccess paper.
Inborn disorders of the malate aspartate shuttle
Melissa H. Broeks, et al
https://doi.org/10.1002/jimd.12402
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Jul 16, 2021
The Young Metabolists Society
The 'Junge Stoffwechselmedizin' or Young Metabolic Society is an initiative in Germany intended to support early career doctors, dieticians, scientists and nurses interested in the IMD field. Young metabolists, Dr Heiko Brennenstuhl and Dr Vanessa Kock, explain just what it's all about.
They warmly welcome anyone who shares their vision of shaping the future of metabolic medicine in Europe (and beyond) to get in touch via info@junge-stoffwechselmedizin.de.
The “Young Metabolic Society”: An interest group for young professionals in the field of metabolic medicine
https://doi.org/10.1002/jimd.12409
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Jul 9, 2021
Why everyone needs to know about Urea Cycle Disorders
Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the first revision of the Guidelines for Management published in 2019.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan
Jun Kido, et al
https://doi.org/10.1002/jimd.12384
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Ségolène Toquet, et al
https://doi.org/10.1002/jimd.12403
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, et al
https://doi.org/10.1002/jimd.12100
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Jun 25, 2021
Treatment In Lysosomal Storage Disorders
Professor Robin Lachmann of the Charles Dent Metabolic Unit discusses the science behind Enzyme Replacement Therapy and Gene Therapy and explains why these do, and sometimes do not, work in Lysosomal Storage Disorders. Professor Lachmann also discusses the progress towards establishing adult metabolic services in the UK and elsewhere.
Treating lysosomal storage disorders: What have we learnt?
Robin H. Lachmann
https://doi.org/10.1002/jimd.12131
Education and training in adult metabolic medicine: Results of an international survey
Annalisa Sechi, et al
https://doi.org/10.1002/jmd2.12044
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Jun 11, 2021
An International Classification of Inherited Metabolic Disorders
Johannes Zschocke, Shamima Rahman, and Carlos Ferreira join hosts James Nurse and Eva Moreva to discuss their recent paper on the ICIMD, a new classification system that eloquently organises all things metabolic. They explain what's included, why it is necessary and just how simple it all is. Interested listeners should also read: Quo vadis: the re-definition of “inborn metabolic diseases” (https://doi.org/10.1007/s10545-015-9893-x)
An International Classification of Inherited Metabolic Disorders
Carlos R. Ferreira et al.
https://onlinelibrary.wiley.com/doi/10.1002/jimd.12348
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May 28, 2021
Emergency Protocol.net
Dr Terry Derks is joined by co-author, collaborator and IMD parent, Sebastiaan te Boekhorst to discuss the emergencyprotocol.net website, an initiative to empower families and standardise care for children with FAOD and GSDs. Alongside Terry and Sebastiaan are Enrique Landelino “Lande” Contreras and Marta D’Agosto, parents of Nina, a little glycogen storage disease warrior, sharing their thoughts on what this work means to them.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net
Alessandro Rossi et al.
https://doi.org/10.1002/jimd.12386
View from inside: Nina, Glycogen storage disease warrior
Written by Nina's Parents: Enrique Landelino “Lande” Contreras and Marta D'Agosto
https://doi.org/10.1002/jimd.12246
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May 14, 2021
N-glycome analysis in Congenital Disorders of Glycosylation
The Congenital Disorders of Glycosylation are a rapidly growing group of IMDs but can present a number of diagnostic challenges. In this podcast, Dr Julien Park, Dr Robert Mealer, and Professor Thorsten Marquardt discuss an additional technique for assessing glycosylation and its role in the diagnosis and management of SLCC39A-CDG.
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency
Julien H. Park et al.
https://doi.org/10.1002/jimd.12306
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Apr 30, 2021
Galactosemia: An old diagnosis with new ideas
Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the promise of new treatments, what drives their interest in galactosemia and a new method for formally assessing fine motor control in these patients.
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups
Shauna A. Rasmussen et al.
https://doi.org/10.1002/jimd.12311
Hand fine motor control in classic galactosemia
Jessica MacWilliams et al.
https://doi.org/10.1002/jimd.12376
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Apr 16, 2021
Diagnosis and management of methylmalonic acidaemia and propionic acidaemia
Dr Patrick Forny and Dr Matthias Baumgartner join our social media editor to discuss their work on the first revision to the guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia. This follow-up to a very popular resource takes a new approach to reviewing evidence and discusses the latest advances in the field.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Patrick Forny et al.
https://doi.org/10.1002/jimd.12370
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Apr 2, 2021
Transplantation in IMD
Dr Monique Williams joins us on the podcast to discuss the European experience of transplantation in Inherited Metabolic Disease. There’s currently no central record of procedures or outcomes and Dr Williams and her team are keen to standardise management around transplant and ensure that there is a robust evidence base.
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data
Femke Molema et al.
https://doi.org/10.1002/jimd.12318
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Mar 19, 2021
LSD Heterozygosity and Neurodegenerative Disease
Authors Dr Kim Hemsley and Nazzmer Nazri, from the Childhood Dementia Research Group, are joined by their colleague Dr Nick Smith to discuss their recent paper, as well as the wider implications of heterozygosity for Lysosomal Storage Disorders (LSDs) and whether these are associated with early-onset neurodegenerative disease. 50000 children a year are born with conditions associated with childhood dementia and as many as 1 in 40 people carry mutations associated with LSDs so the implications of their work are potentially very wide-ranging.
Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?
Meghan L. Douglass et al.
https://doi.org/10.1002/jimd.12359
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Mar 5, 2021
Everything about Alkaptonuria
It was a pleasure to be joined by the inimitable Professor Lakshminarayan Ranganath to discuss all things AKU. Ranga spoke about the outcomes of two recent papers looking at his centre’s experience using Nitisinone in these patients but also explains disease physiology, the history of drug discovery, new insights into the disease and upcoming research; 120 years of metabolic medicine in 25 minutes.
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients
Lakshminarayan R. Ranganath, Milad Khedr, Sobhan Vinjamuri & James A. Gallagher
https://doi.org/10.1002/jimd.12363
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with alkaptonuria
Lakshminarayan R. Ranganath, James A. Gallagher, John Davidson & Sobhan Vinjamuri
https://doi.org/10.1002/jimd.12340
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Feb 19, 2021
A narrative review of GSD III
Dr Giuseppe Ronzitti and Dr Alan O’Brien discuss their recent paper of Glycogen Storage Disorder Type III. They discuss the clinical features of the condition, new insights around the age of onset of muscular symptoms and treatments in use today, as well as those being research for use in the years to come.
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
Édouard Berling et al.
https://doi.org/10.1002/jimd.12355
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Feb 5, 2021
ATP6V1A related metabolic cutis laxa
Dr Uwe Kornak and Dr Björn Fischer-Zirnsak explain all things cutis lava to our social media editor, and explain how their recent work helps further define the clinical description of ATP6V1A disease.
Expanding the clinical and molecular spectrum of ATP6V1Arelated metabolic cutis laxa
Guido Vogt MSc et al.
https://doi.org/10.1002/jimd.12341
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Jan 22, 2021
All About ALD
In the 16th podcast from the Journal of Inherited Metabolic Disease, Dr Stephan Kemp and Dr Eric Mallack join our social media editor to discuss their recent papers on X-linked adrenoleucodystrophy. Dr Kemp explains how a variety of model systems are used to aid disease understanding and help in the development of new therapies, whilst Dr Mallack shares new guidance around surveillance for the onset of cerebral ALD in childhood.
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines
Eric J. Mallack et al.
https://doi.org/10.1002/jimd.12356
Evolution of adrenoleukodystrophy model systems
Roberto Montoro et al.
https://doi.org/10.1002/jimd.12357
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Jan 8, 2021
Pyridoxine-dependent epilepsy
Peter Clayton, Emma Footitt and Curtis Coughlin join us to discuss the new consensus guidelines for PDE-ALDH7A1 disease. Professor Clayton explains the pathophysiology and history of the condition. Dr Footitt and Dr Clayton discuss the metabolic investigations of early onset seizures as well as the proposed management of pyridoxine-dependent epilepsy.
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
Curtis R. Coughlin et al.
https://doi.org/10.1002/jimd.12332
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Dec 18, 2020
Talking about Triheptanoin
Professor Jerry Vockley joins our social media editor, James Nurse, to discuss a recent paper looking at the use of Triheptanoin (C7) in patients with long chain fatty acid oxidation disorders.
Listeners may also be interested in the emotive editorial: View from inside: Rare diseases in the times of COVID19 (https://doi.org/10.1002/jimd.12334)
Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study
Jerry Vockley et al.
https://doi.org/10.1002/jimd.12313
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Dec 4, 2020
It takes two to TANGO2
The journal recently published two articles on TANGO2 deficiency, describing a case series of 20 patients and exploring the uncertain pathophysiology of this condition. Dr Sebastian Montealgre, Dr Pascale de Lonlay, Dr Felix Distelmaier and Dr Michael Sacher joined our social media editor to explain what they observed and the implications of those findings.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire‐Marine Bérat et al.
https://doi.org/10.1002/jimd.12314
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria
Miroslav P. Milev et al.
https://doi.org/10.1002/jimd.12312
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Nov 20, 2020
Characterising late-onset MTHFR deficiency
Dr Cecilia Marelli and Dr Fanny Mochel discuss their recent work, looking at the largest case series of adults with late-onset MTHFR deficiency described so far. They discuss the clinical phenotype and diagnostic approach to this treatable, neurodegenerative disorder.
Clinical and molecular characterization of adult patients
Cecilia Marelli et al.
https://doi.org/10.1002/jimd.12323
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Nov 6, 2020
Best Of JIMD Reports
This episode hi-lights JIMD Reports, the open access companion journal to the Journal of Inherited Metabolic Disease. We’ve chosen to hi-light 5 very different papers and are joined by 7 of the authors to discuss their work. Professor Eileen Treacy discusses Trimethylaminuria, Dr Khushbu Patel and Dr Bill Phipps explain alternative amino acid analysis techniques (at 00:07:30), Dr Joyanna Hansen looks at what the Simplified Diet means in the US (00:13:13), Dr Amy Kritzer explains why they skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder (00:19:08) and Professor Simon Heales and Dr Stefan Krywawych look at the utility of ear wax for detecting IMD (00:24:37).
The genetic and biochemical basis of trimethylaminuria in an Irish cohort
Samantha Doyle et al.
https://doi.org/10.1002/jmd2.12028
Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler
William S. Phipps e…
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Oct 23, 2020
MSD: The diagnosis needs the patients
Dr Lars Schlotawa, Dr Rebecca Ahrens‐Nicklas and Dr Laura Adang, as well as MSD parent and disease advocate Alan Finglas, discuss two recent studies on Multiple Sulfatase Deficiency. Alan shares his insights on disease advocacy and what work like this means to him and his family.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Laura A. Adang et al.
https://doi.org/10.1002/jimd.12298
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency
Lars Schlotawa et al.
https://doi.org/10.1002/jimd.12282
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life
Alan Finglas
https://doi.org/10.1002/jimd.12305
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Oct 9, 2020
Taking a position on MNGIE
Dr Michio Hirano and Dr Rita Rinaldi discuss their recent work that summarises a 2 day consensus conference to provide guidance on the diagnosis, prognosis and treatment of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
Michio Hirano et al.
https://doi.org/10.1002/jimd.12300
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Sep 25, 2020
To WES or Not to WES
Professor Eva Morava and Dr James Nurse host three of the authors of a recent study looking at the utility whole exome sequencing in newborn screening. Dr Jennifer Puck, Dr Renata Gallagher and Dr Aashish Adhikari explain why we screen, how we screen like we do and what they found when they looked at the utility of WES screening verses traditional MS/MS for 8 years of dried bloodspots in California.
Newborn screening: To WES or not to WES, that is the question
Eva Morava, Matthias Baumgartner, Marc Patterson, Verena Peters, Shamima Rahman
https://doi.org/10.1002/jimd.12303
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Sep 11, 2020
Ketogenic Diets In Metabolic Disease
Dr Jong Rho of Rady Children’s Hospital discusses metabolic epilepsies amenable to the ketogenic diet. Dr Rho explains the effects of the diet on the body and why it is effective in certain forms of inherited metabolic disease.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms
Cezar Gavrilovici, Jong M. Rho
https://doi.org/10.1002/jimd.12283
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Aug 28, 2020
Towards Trials in Mitochondrial Disease
Professor Shamima Rahman speaks with Social Media editor James Nurse about the challenges of conducting clinical trials in mitochondrial disease and developments in treatment. Professor Rahman explains that improvements in diagnostics have allowed a renewed focus on treatments.
Moving Towards Clinical Trials for Mitochondrial Diseases
Robert D.S. Pitceathly, Nandaki Keshavan, Joyeeta Rahman, Shamima Rahman
https://doi.org/10.1002/jimd.12281
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Aug 14, 2020
PGM1-CDG with Professor Morava
Professor Eva Morava of the Mayo Clinic takes us through the recently published consensus statement on the diagnosis and management of PGM1-CDG. Professor Morava provides a concise background to Congenital Disorders of Glycosylation and PGM1 disease specifically, and she explains how to recognise and diagnose this rare but treatable condition.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up and management
Altassan et al
https://doi.org/10.1002/jimd.12286
Interested listeners may also want to read the consensus statement for PMM2-CDG published at the start of this year (https://doi.org/10.1002/jimd.12024).
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Jul 24, 2020
Simplifying Inherited Metabolic Disease
Professor Saudubray and Professor Garcià-Cazorla discuss their paper from 2019 which proposed a simplified classification of IMD. They discuss the challenges of placing over 1000 diagnoses in one of three categories and the value this provides to clinicians.
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
Jean‐Marie Saudubray et al
https://doi.org/10.1002/jimd.12086
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Jul 10, 2020
IMD and Susceptibility to COVID19
Professor Peter Clayton of the Institute for Child Health speaks to the JIMD Podcast about recent findings suggesting that an inborn error in a proline transporter could increase susceptibility to severe CoVID19 disease.
Is susceptibility to severe COVID ‐19 disease an inborn error of metabolism?
Peter Clayton
https://doi.org/10.1002/jimd.12280
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Jun 26, 2020
Mitochondria Medication And POLG
Professor Bindoff and Professor Gorman, two luminaries of the world of mitochondrial medicine, speak with James Nurse about recent work in JIMD expanding knowledge on safe drug use in Primary Mitochondrial Disease. Professor Bindoff also explains a proposed classification for Polymerase Gamma disease including when to suspect this condition and how to investigate it.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus
Maaike C. De Vries et al
https://doi.org/10.1002/jimd.12196
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Omar Hikmat et al
https://doi.org/10.1002/jimd.12211
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Jun 23, 2020
PKU And Ageing
Dr Emma Vardy, a Consultant Geriatrician from Salford, UK, explains the findings of a recent JIMD review looking at the impact of phenylketonuria in adulthood. With those who have benefitted from early treatment now approaching their fifth and sixth decades, PKU cannot just be seen as a disease of childhood and more work is needed to look into the long term impact of the condition.
Phenylketonuria, co‐morbidity, and ageing: A review
Emma R.L.C. Vardy, Anita MacDonald, Suzanne Ford, Denise L. Hofman
https://doi.org/10.1002/jimd.12186
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