JIMD Podcasts
A fortnightly podcast where authors discuss findings from recent papers and share the stories behind their work. Find every episode so far on this page or follow the links below to add the JIMD Podcasts to your favourite podcast directory and never miss an episode.
July 2025
In this latest episode, we explore what's next for treating classic galactosemia. The discussion is anchored in two fascinating recent publications, including the wide-angle perspective from “Reshaping the Treatment Landscape of a Galactose Metabolism Disorder” and a deep dive into something delightfully unexpected: purple sweet potato color (PSPC) as a therapeutic strategy. Yes, purple sweet potatoes. Who knew?
We’re joined by familiar voices Estela Rubio-Gozalbo and Kent Lai, alongside first-time guests Synneva HagenLillevik and Bijina Balakrishnan, for a conversation that blends bold scientific possibility with practical insights on the challenges of developing disease-modifying therapies for galactosemia.
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder
M. Estela Rubio-Gozalbo, et al
Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia
Olivia Bellagamba, et al
June 2025
Lottie Morison joins the podcast to discuss recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Lottie is the first speech and language pathologist to lead an episode and brilliant exemplifies the multidisciplinary nature of IMD care.
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie D. Morison, et al
Dr Travis Johnson and Dr Sarah Mele join the podcast to explain why flies make great models for Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) and how their work is shedding light on different treatment modalities.
Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency
Sarah Mele, et al
May 2025
Treatment is available for most intoxication-type disorders, but would you know what to do in an emergency. In this podcast, Dr Dexter Tarr discusses the acute management when these conditions cause encephalopathy, seizures, stroke-like episodes, thromboses, liver failure, cardiac failure, arrhythmias and rhabdomyolysis.
Emergency Management of Intoxication-Type Inherited Metabolic Disorders
J. Dexter Tarr, Andrew A. M. Morris
Michel Tchan and Mirjam Langeveld join the podcast to look at changes to adult IMD services over the last decade and consider the challenge to develop services to meet the needs of growing patient numbers over the next 10 years.
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
Michel Tchan, et al
April 2025
Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment.
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J. Van Bergen, et al
Asthik Biswas, Spyros Batzios, and Kshitij Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness.
Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment
Asthik Biswas, et al.
It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal burden of the condition.
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre
Reena Sharma et al
Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.
Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders
Marshall Summar
Dr Jessica Gold discusses observations around executive function in early treated MSUD patients and how this impacts on outcomes around transition to adulthood.
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease
Jessica I. Gold, Alanna Strong, Nina B. Gold, Marc Yudkoff, Dava Szalda, Sophia Jan, Lisa A. Schwartz, Rebecca Ganetzky
March 2025
Eva Hoytema van Konijnenburg and Clara van Karnebeek tell the podcast about the treatabolome an epic project to include all current IMD treatments and add them to the IEMbase.
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek
February 2025
Dr Andrew Morris joins the podcast to discuss insights from 311 patients with CBS deficiency (classical homocystinuria), their response to treatment and clinical outcomes.
Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment
Andrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich, E-HOD Consortium
January 2025
Nathalie Guffon joins the podcast to discuss alpha-mannosidosis and the long term efficacy of enzyme replacement therapy with velmanse alfa.
Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis
Nathalie Guffon, Line Borgwardt, Anna Tylki-Szymańska, Andrea Ballabeni, Francesca Donà, Amer Joseph, Henriët Nienhuis, Caterina Maugeri, Allan Lund
It seems everyone is talking about autophagy, but what is it and what happens when it goes wrong? Hormos Salimi Dafsari, Carlo Dionisi-Vici, and Heinz Jungbluth join the podcast to answer these questions, discuss their experience across 3 (or 2.5) generations of clinical practice and why you never see an obese 100-year-old.
An update on autophagy disorders
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi-Fakhari, Manolis Fanto, Carlo Dionisi-Vici, Heinz Jungbluth
Marie-Thérèse Henke, Alessandro Prigione, and Markus Schuelke get 2025 off to an informative start discussing why so many models exist for Leigh Syndrome, why we need them and how insights from disease models have led to Sildenafil being used in some patients.
Disease models of Leigh syndrome: From yeast to organoids
Marie-Thérèse Henke, Alessandro Prigione, Markus Schuelke
December 2024
Dr François Feillet returns to the podcast to discuss the final results of the KAMPER study, evaluating the long-term safety of sapropterin in phenylketonuria (phenylalanine hydroxylase deficiency)
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
François Feillet, Jean-Baptiste Arnoux, María Bueno Delgado, Alberto Burlina, Brigitte Chabrol, Ece Kucuksayrac, Florian B. Lagler, Ania C. Muntau, David Olsson, Sabrina Paci, Frank Rutsch, Francjan J. van Spronsen, on behalf of the KAMPER investigators
Dr Sema Kalkan Uçar joins the podcast to discuss the merits of a high protein, high fat diet for the management of patients with Glycogen Storage Disease type 3a.
Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance
Sema Kalkan Uçar, et al.
November 2024
In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders.
Exploring RNA therapeutics for urea cycle disorders
Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat
Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
J. J. A. van den Dorpel, M. J. Mackenbach, M. H. G. Dremmen, W. M. C. van der Vlugt, D. Rizopoulos, P. A. van Doorn, A. T. van der Ploeg, R. Muetzel, N. A. M. E. van der Beek, J. M. P. van den Hout
October 2024
Professor Shamima Rahman and Dr Nandaki Keshavan take us on a whistle stop tour of the different approaches taken to gene therapy in mitochondrial disease and why some may work better than others.
Gene therapy for mitochondrial disorders
Nandaki Keshavan et al.
Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 97 adults.
September 2024
Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments.
Neuronopathic Gaucher disease: Rare in the West, common in the East
Ozlem Goker-Alpan, Margarita M. Ivanova
Dr Melanie Gillingham joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B. Gillingham et al.
August 2024
Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies.
Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia
Jennifer M. I. Daenzer et al.
Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately.
Disorders of fatty acid homeostasis
Frédéric M. Vaz et al.
Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact multiple different metabolic pathways.
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants
I. J. J. Muffels et al
July 2024
Dr Henry Lee joins the podcast to discuss the challenges of developing gene therapies for inherited disorders of neurotransmission and shares the progress that his group has made with SSADH deficiency.
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
Henry H. C. Lee et al.
Marjorie Dixon and Annemiek van Wegberg join guest host Curtis Coughlin II to complete the treatment puzzle in pyridoxine dependent epilepsy and explain the role and practicalities of lysine restriction in PDE.
Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines
Marjorie Dixon et al.
June 2024
Dr Estela Rubio-Gozalbo and Dr Bernadette Jansma explain why brains oscillate, what that has to do with classical galactosemia and how a non-invasive intervention could help with language difficulties.
Altered neural oscillations in classical galactosaemia during sentence production
Sara Mazzini, et al
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Britt Derks, et al
Dr Fanny Mochel returns to the podcast to answer the question "What can pediatricians learn from adult inherited metabolic diseases?".
What can pediatricians learn from adult inherited metabolic diseases?
Fanny Mochel
May 2024
Dr Maja Risager Nielsen and Dr François Feillet discuss pregnancy in PKU and two different papers looking at the outcomes in pregnancies with and without BH4 treatment.
The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria
Maja Risager Nielsen, Christine Jørgensen, Kirsten Ahring, Allan Meldgaard Lund, Mette Cathrine Ørngreen
When might acute liver failure have a metabolic cause? Dr Robert Hegarty tries to answer this question and more following his recent review article on Genetic aetiologies of acute liver failure.
Genetic aetiologies of acute liver failure
Robert Hegarty, Richard J. Thompson
Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition.
Nucleotide metabolism, leukodystrophies, and CNS pathology
Francesco Gavazzi, et al.
April 2024
This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M. Stepien et al.
March 2024
The podcast returns to the subject of gene therapy, with Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen discussing the potential of liver-directed therapies with an emphasis on Wilson disease, Crigler-Najjar syndrome, and PKU.
Liver-directed gene therapy for inherited metabolic diseases
Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen
Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model.
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
Kunwar Jung-KC, Alba Tristán-Noguero, et al.
February 2024
A superlative trio, Dr Machteld Oud, Dr Clara van Karnebeek and Dr Saskia Wortmann join the podcast to explain the importance of diagnostics, why all exomes aren't equal and just how should you proceed after a “negative” exome.
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B. Wortmann, et al.
Returning guests, Nina Stolwijk and Dr Carla Hollak, and their colleague Dr Annet Bosch, try to untangle the tricky subject of regulation in nutritional products used as therapies in IMD. They also present a framework for when a food should be considered a medicine.
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism
N. N. Stolwijk, et al.
Dr Sonam Gurung and Dr Julien Baruteau discuss movement disorders in Arginosuccinic aciduria and explain how recent work with mRNA therapy shows potential as a treatment in this condition.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
S. Gurung, et al.
January 2024
In this podcast, Dr Roshni Vara discusses the experience of a single paediatric liver centre with children whose liver failure arose due to a mitochondrial DNA depletion syndrome.
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience
R. Vara, et al.
Dr David Bick, Dr Jim Bonham OBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?"
Genomic newborn screening: Are we entering a new era of screening?
Ute Spiekerkoetter, et al
December 2023
The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, Matthias Baumgartner, Verena Peters, Marc Patterson, Johannes Zschocke and Sean Froese.
Quo vadis now: Beyond genomics to an era of personalised medicine
Shamima Rahman, et al.
Risk and potential of ChatGPT in scientific publishing
Verena Peters, et al.
In our latest podcast, Antonia Ribes, Frederic Tort, and Gerard Muñoz-Pujol discuss CRISPR/Cas9 based technique for the validation of genetic variants requiring just the genetic data.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Gerard Muñoz-Pujol, et al.
November 2023
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. Koeber et al.
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.
October 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
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients
Mattias Lissing, et al
October 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
September 2023
Fetal gene therapy
In our latest podcast we welcome Professor Simon Waddington, a reader in Gene Transfer Technology at University College London and Acting Director of 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
September 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: Keira 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
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism
Martina Huemer, et al
Exercise testing and prescription in patients with inborn errors of muscle energy metabolism
Kiera Batten, et al
September 2023
Gene therapy in urea cycle disorders: a historical perspective and future prospects
Dr Julien Barateau 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 defects: An update from historical perspectives to future prospects
Claire Duff, et al.
August 2023
Sander Houten returns to the podcast to 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
August 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
July 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
July 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
June 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
June 2023
Gene therapy in a mouse model of MSUD
Dr Manuel Schiff and Dr Clément Pontoizeau discuss the successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy
Clément Pontoizeau, et al
May 2023
Key terms and definitions in acute porphyrias 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.
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network
Penelope E. Stein, et al
May 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
April 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
April 2023
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
March 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
March 2023
B vitamins, drosophila and TANGO2-deficiency disorder
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
B-complex vitamins for patients with TANGO2-deficiency disorder
Sarah E. Sandkuhler, et al
March 2023
The complexity 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
February 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
February 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
January 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
January 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
December 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]
December 2022
Diagnostics, EXPLORE B and POWER in Porphyria
Kristen Wheeden of the United Porphyria 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
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms
David Cassiman, et al
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
November 2022
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
November 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
October 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
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment
Eran Tallis, et al
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib
Sarah Catharina Grünert, et al
October 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
September 2022
Moving towards management guidelines in AL8 – 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
September 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
September 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
August 2022
Training in Adult Metabolic Medicine
Dr Sandra Sirrs returns to the podcast to discuss her group’s work to develop training competencies for clinicians wanting to work in adult metabolic medicine.
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians
Sandra Sirrs, et al
The right tool for the job—Fit for purpose training programs in adult metabolic medicine
Annalisa Sechi, et al
August 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
August 2022
Future therapies in galactosemia
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
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
August 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
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Marit Schwantje, et al
July 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.
Dr Kirk 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
July 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
July 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)
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)
July 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
June 2022
Lost in translation — Challenges in drug development for inherited metabolic diseases
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
June 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
May 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
Current and future treatment approaches for Barth syndrome
Reid Thompson, et al
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 Pugh, 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
Experimental models of Barth syndrome
William T. Pu
Mechano-energetic aspects of Barth syndrome
Jan Dudek & Christoph Maack
Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy
Kathryn C. Chatfield, et al
May 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
May 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
April 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
April 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
March 2022
Treatment in Alkaptonuria
Prof Ranganath and Nick Sireau discuss the merits of protein restriction and the correct Nitisinone dose in Alkaptonuria.
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling
Lakshminarayan R. Ranganath, et al
Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria
Birgitta Olsson, et al
March 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
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency
George A. Diaz, et al
February 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 an 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
February 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
January 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
January 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
High dose genistein in Sanfilippo syndrome: A randomised controlled trial
Arunabha Ghosh, et al
December 2021
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
December 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.
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats
Vanden Avond, et al
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
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study
Qureshi, et al
December 2021
Organoids in IMD
Dr Fuchs and Vivian Lehmann explain their work with organoids, small cellular footballs that could be the future of disease modelling.
'The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism'
Vivian Lehmann, et al
November 2021
MPS 1: Where are we now?
An overview of MPS1 disease with Dr Sandra Kingma, including a discussion around screening, treatment and hopes for the future.
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Sandra D. K. Kingma, An I. Jonckheere
Easy as ABC... D3
Sander Houten and Pablo Ranea-Robles explain insights in DCA metabolism from a an abcd3 KP mouse model.
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis
Pablo Ranea-Robles et al
October 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.
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
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
September 2021
Professor Warren Kruger of the Fox Chase Cancer Center 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 to do what he does.
Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy
Hyung-Ok Lee et al
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
July 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, Jana C. Hollenbeck, Janine Reunert, Anja Seelhöfer, Stephan Rust, Manfred Fobker, Saskia Biskup, Ulrike Och, Mechthild Linden, Jörn Oliver Sass, Thorsten Marquardt
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, Clara D. M. van Karnebeek, Ronald J. A. Wanders, Judith J. M. Jans, Nanda M. Verhoeven-Duif
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.
The “Young Metabolic Society”: An interest group for young professionals in the field of metabolic medicine
Heiko Brennenstuhl & Vanessa Kock
Professors Jun Kido, Johannes Häbarle 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
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Ségolène Toquet, et al
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, et al
Podcast with Robin Lachmann discussing Treating lysosomal storage disorders: What have we learnt? and Education and training in adult metabolic medicine: Results of an international survey
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.
June 2021
Podcast featuring Johannes Zschocke, Shamima Rahman, and Carlos Ferreira with hosts James Nurse and Eva Moreva on An international classification of inherited metabolic disorders (ICIMD)
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).
May 2021
Podcast featuring Dr Terry Derks and Sebastiaan te Boekhorst on 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 and iew from inside: Nina, Glycogen storage disease warrior.
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.
Podcast featuring Dr Julien Park, Dr Robert Mealer, and Professor Thorsten on N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
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.
April 2021
Podcast featuring Professor Judith Fridovich-Keil and Jessica MacWilliams on Hand fine motor control in classic galactosemia and 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.
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.
Podcast featuring Dr Patrick Forny and Dr Matthias Baumgartner on Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
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.
Podcast featuring Dr Monique Williams on Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data.
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.
March 2021
Podcast featuring Dr Kim Hemsley and Nazzmer Nazri on Is SGSH heterozygosity a risk factor for early‐onset 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.
Podcast featuring Professor Lakshminarayan Ranganath on Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients and Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with 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.
February 2021
Podcast featuring Dr Giuseppe Ronzitti and Dr Alan O’Brien on Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
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.
Podcast featuring Dr Uwe Kornak and Dr Björn Fischer-Zirnsak on Expanding the clinical and molecular spectrum of 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.
January 2021
Podcast featuring Dr Stephan Kemp and Dr Eric Mallack on MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines and Evolution of adrenoleukodystrophy model systems
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.
Podcast featuring Peter Clayton, Emma Footitt and Curtis Coughlin on Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
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.
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