JIMD Podcasts

The first updated Footprints article requires two guests to do it justice - Dr Dakota Peacock and Dr Darius Ebrahimi-Fakhari join Eva Morava to discuss movement disorders in Inherited Metabolic Disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2025.109084 Find IMDs associated with psychiatric presentations at: https://www.iembase.org/gamuts/store/docs/Movement_disorders_update.pdf

A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery. Read the full report here: https://doi.org/10.1136/bcr-2025-265278

In this episode, we speak with Irena Muffels and Eva Morava about their recent review, The Therapeutic Future for Congenital Disorders of Glycosylation. We explore the three pillars they propose for advancing CDG treatment: improving disease models, enhancing clinical trial readiness, and finding scalable strategies that move us beyond one-gene-at-a-time approaches. From patient-derived brain organoids to AI-powered outcome assessments and the promise of basket trials, this conversation is a sweeping tour through the innovations shaping the future of CDG care. The Therapeutic Future for Congenital Disorders of Glycosylation I. J. J. Muffels, T. Kozicz, E. O. Perlstein, E. Morava https://doi.org/10.1002/jimd.70011

In this episode, Prof Chris Vorster (Director, Centre for Human Metabolomics, North-West University, South Africa), Sarah Viall (Assistant Professor, Molecular and Medical Genetics, Oregon Health & Science University, USA) and PD Dr. med. Ulrike Mütze (Consultant, Heidelberg University Hospital, Germany) join Silvia Radenkovic and Rodrigo Starosta to explore the evolving landscape of newborn screening. They discuss national and international variations in practice, how to maintain consistency and quality, and the future scope of testing – including opportunities to improve access in resource-limited settings. Authors’ opinions are their own and do not represent their institutions. Referenced papers include: Newborn screening in South Africa: the past, present, and plans for the future. Malherbe et al (2024) Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. McHugh et al (2024) Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon. Viall & Held (2025) Long-term outcomes of adolescents and young adults identified by metabolic newborn screening. Mütze et al (2025) Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening. Mengler et al (2024) Vitamin B12 Deficiency Newborn Screening. Mütze et al (2024) The role of exome sequencing in newborn screening for inborn errors of metabolism. Adhikari et al (2020)

In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders. Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects Eva M. M. Hoytema van Konijnenburg, et al https://doi.org/10.1002/jimd.70017

Marya Sabir shares new insights into the utility of leukocyte sialic acid levels as a diagnostic and monitoring tool in free sialic acid storage disorder. Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder Marya S. Sabir, et al https://doi.org/10.1002/jmd2.70029

Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough. Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach Ali Mohajer, et al https://doi.org/10.1002/jimd.70049

In this episode, Dr Joost Groen, a clinical biochemist at the University Medical Center Groningen, and Dr Matt Gentry, Professor & Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida, join Rodrigo and Silvia to discuss new insights, AI, cancer metabolism and some of their favourite papers on Glycogen Storage Disorders. Authors opinions are their own and do not represent their institutions. GSD episode papers: Brain glycogen serves as a critical glucosamine cache required for protein glycosylation. Sun et al A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles. Groen et al Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders. Ullman et al Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin. Overduin et al Gross-Valle The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside. Gross-Valle et al Glycogen drives tumour initiation and progression in lung adenocarcinoma. Clarke HA et al Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis. Conroy et al In situ mass spectrometry imaging reveals heterogeneous glycogen stores in human normal and cancerous tissues. Young et al Glycogen accumulation modulates life span in a mouse model of amyotrophic lateral sclerosis. Brewer et al Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants. Rahman MS et al Neurological glycogen storage diseases and emerging therapeutics Colpaert et al

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 https://doi.org/10.1002/jimd.70013 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 https://doi.org/10.1002/jimd.70002

Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation? https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122

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 https://doi.org/10.1002/jimd.12838

A special episode of the podcast as we visit the presentation day for the Metbionet Metabolic Minds leadership programme to hear about a plan to safeguard the future of specialist biochemistry services in the UK. Dr Rachel Carling explains the programme and then we hear from three of the course candidates, Dr Alana Burns, Annabel Wong and Freya Hassall about their projects on LSD testing, troubleshooting MS/MS and handling measurement uncertainty.

Dr Luciana Hannibal, Research Group Leader / Head of Translational Metabolomics at the Centre for Integrative Biological Signalling Studies in Freiburg, and Dr Julien Park, a Physician-scientist at the Children's University Hospital Münster, are Rodrigo and Silvia's latest guests, providing a thorough overview of disorders of Redox Metabolism. Authors opinions are their own and do not represent their institutions. Papers discussed include: Targeted Metabolic Profiling of Methionine Cycle Metabolites and Redox Thiol Pools in Mammalian Plasma, Cells and Urine Behringer et al Treatment with 2-phospho-L-ascorbic acid mitigates biochemical phenotypes of heme oxygenase 1 deficiency Berendes et al Guidelines for measuring reactive oxygen species and oxidative damage in cells and in vivo Murphy et al The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 Park et al Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype Berendes et al Redox signaling in inherited diseases of metabolism, Current Opinion in Physiology Jacobsen and Hannbal Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor. Myszkowska 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 https://doi.org/10.1002/jimd.12840

Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome. Read the article: https://doi.org/10.1002/cns3.20098 Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

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 https://doi.org/10.1002/jimd.70007

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 https://doi.org/10.1002/jimd.70005

Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria. Authors opinions are their own and do not represent their institutions. Papers discussed include: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency Forny et al Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin. Head et al Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. Manoli et al Prime editing for functional repair in patient-derived disease models Schene et al Mutation-specific reporter for optimization and enrichment of prime editing Schene et al Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. Manoli et al Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. Molema et al

Lucas Agnoletto and Dr Rebecca Halligan report work looking at sleep quality in children with hepatic GSDs, considering whether sleep is impacted by poor glycemic control or our efforts to improve this through overnight feeding. Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study Lucas Agnoletto, et al https://doi.org/10.1002/jmd2.12462

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 https://doi.org/10.1002/jimd.12541 NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses Nicole J Van Bergen, et al https://doi.org/10.1093/brain/awy310 Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma Nicole J Van Bergen, et al https://doi.org/10.3390/ijms24043582