JIMD Podcasts

Epizode

• 
  Research Round-Up: Sterols and Bile Acids 11.08.2026 49min

  Research Round-Up: Sterols and Bile Acids by Journal of Inherited Metabolic Disease
• 
  Beyond Metabolic Control: Optimising Nutrition in Inborn Errors of Protein Metabolism 04.08.2026 45min

  Júlio César Rocha, Anne Daly and Anita MacDonald discuss how nutritional management can move beyond metabolic control towards better lifelong health. From protein substitutes and point-of-care monitoring to new therapies and AI, what might the future look like? From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism Júlio César Rocha, Anne Daly, Anita MacDonald https://doi.org/10.1002/jimd.70123
• 
  Shortcast: Adult Refsum: Reducing Circulating Phytanic Acid Levels With Dietary Interventions 28.07.2026 2min

  Sarah Firman explores how dietary management can rapidly reduce phytanic acid levels in adult Refsum disease. This case series shows why adequate energy and carbohydrate intake, and avoiding weight loss and catabolism, matter alongside phytanic acid restriction. Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions Sarah J. Firman, et al https://doi.org/10.1002/jmd2.70048
• 
  Hidden Disease or Uncertain Risk? Rethinking IMD Diagnosis and Newborn Screening 21.07.2026 38min

  Are inherited metabolic disorders more common, and less predictable, than we previously thought? Large-scale genomic studies are identifying adults with disease-associated variants who have escaped diagnosis, sometimes despite lifelong symptoms. At the same time, expanding genomic newborn screening risks identifying children who may remain well for decades or never develop clinically significant disease at all. In this episode Dr Nina Gold, Dr Jessica Gold, and Professor Mirjam Langeveld, explore the tension between missed diagnosis and overdiagnosis and ask, when does knowing more genuinely help? Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought? N Gold et al https://doi.org/10.1002/jimd.70094 Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases. M Langeveld, et al. https://doi.org/10.1002/jimd.70057 Exclusion-based exome sequencing in critically ill adults 18–40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing. American Journal of Human Genetics J Gold et al https://www.cell.com/ajhg/fulltext/S0002-9297(25)00238-1 Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening. Gold NB, et al. https://www.medrxiv.org/content/10.64898/2026.06.10.26355380v1 - pre-print not peer reviewed
• 
  IMD Research Round-Up: Phenylketonuria 14.07.2026 1h 5min

  Phenylketonuria (PKU) was one of the first inherited metabolic disorders to be recognised, but there is still plenty to discover. Silvia Radenkovic and Rodrigo Starosta are joined by Dr Cary Harding and Dr Wendy Smith to discuss evolving treatments, updated management guidelines and where PKU research is heading next. The views and opinions expressed in this podcast are those of the speakers and do not necessarily reflect those of their institutions or organisations.
• 
  Rapamycin and Pharmacogenomics in Niemann-Pick C 07.07.2026 20min

  A study of rapamycin in Niemann-Pick C raises an important question: what if the success of a treatment depends on a patient's wider genetic background? Dr Andrés Klein discusses pharmacogenomics, modifier genes and why precision medicine may need to go far beyond making the diagnosis. A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C Benjamín Szenfeld, et al https://doi.org/10.1002/jimd.70214
• 
  Shortcast: Clinical Outcomes in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease 30.06.2026 5min

  In this JIMD Shortcast, first author Arty Selvanathan discusses their study exploring how clinical outcomes relate to biochemical findings in cobalamin C (cblC) disease. What can biochemical markers really tell us about disease severity, and where do their limitations lie? Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease Arthavan Selvanathan, et al https://doi.org/10.1002/jmd2.70091
• 
  Feeding the Microbiome: Rethinking Protein and Propionate in MMA 23.06.2026 11min

  How much of metabolic control in methylmalonic acidemia is determined by diet, and how much by the microbiome? In this episode, Engin Köse discusses a prospective longitudinal study exploring protein composition, gut microbial changes, and the impact of metronidazole on biochemical control in MMA. Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study Engin Köse, et al https://doi.org/10.1002/jimd.70172
• 
  Shortcast: Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB 16.06.2026 3min

  In this Shortcast Dr Mark Wijnen presents two cases where Teriparatide was used to treat bone complications in MPD IVB but explains how temporally associated cardiac disease compels his groups to advise caution in its use. Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB Mark Wijnen, Evert F. S. van Velsen, J. Gert-Jan Milhous, Esmee Oussoren, Bram C. J. van der Eerden, Margreet A. E. M. Wagenmakers First published: 13 April 2026 https://doi.org/10.1002/jmd2.70088
• 
  High Glycine, Different Diagnoses 09.06.2026 23min

  A raised glycine level can point to a surprisingly broad range of conditions. In this episode, James Nurse is joined by Arthavan Selvanathan and Curtis Coughlin to discuss their review, The History and Nosology of the Glycine Disorders: A Framework for Clinicians. Together they explore why not all hyperglycinaemia is nonketotic hyperglycinaemia (NKH), how our understanding of glycine disorders has evolved, and how clinicians can navigate the differential diagnosis of elevated glycine in practice. From classic and attenuated NKH to lipoate deficiency syndromes, pyridoxine-related disorders, and important phenocopies such as valproate exposure, this episode provides a practical framework for approaching high glycine levels. The History and Nosology of the Glycine Disorders: A Framework for Clinicians Arthavan Selvanathan, et al https://doi.org/10.1002/jimd.70138
• 
  IMD Research Round-Up: Homocystinuria 02.06.2026 42min

  Season 2 of the JIMD Research Round-Up begins with a deep dive into classical homocystinuria (CBS deficiency). Hosts Silvia Radenkovic and Rodrigo Starosta are joined by two internationally recognised experts, Dr Andrew Morris (Royal Manchester Children's Hospital, UK) and Professor Kim Chapman (Children's Hospital Los Angeles, USA). In this episode, they explore: - The clinical spectrum of homocystinuria, from childhood presentations to adults diagnosed after thrombosis - Why the condition is still frequently missed or misdiagnosed - The overlap with Marfan syndrome and the unanswered questions surrounding disease mechanisms - The strengths and limitations of current newborn screening programmes - Dietary treatment, pyridoxine responsiveness, and the challenges faced by patients and families - Emerging therapies including enzyme substitution therapy, chaperone therapies, and ongoing clinical trials - Why there is genuine optimism for the future of homocystinuria care and research A fascinating discussion covering six decades of progress in homocystinuria and the next generation of treatments that may transform care.
• 
  Revisiting D-Bifunctional Protein Deficiency 26.05.2026 20min

  A new international case series revisits the natural history of D-bifunctional protein deficiency, showing that survival into adolescence and adulthood is possible and that normal VLCFA levels do not exclude the diagnosis. Dr James Nurse speaks with Dr Unai Díaz-Moreno and Dr Spyros Batzios about expanding phenotypes, genotype–phenotype correlations, and the growing role of early genetic diagnosis. From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series U. Diaz-Moreno, et al https://doi.org/10.1002/jimd.70118
• 
  Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities 19.05.2026 6min

  Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an attenuated presentation delayed recognition of the underlying disorder for years. Read the paper: https://doi.org/10.1002/jmd2.70079
• 
  The Grey Zone in ABCD1 Variant Classification 12.05.2026 33min

  Professor Troy Lund and Professor Stephan Kemp discuss the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy. The episode explores how integrating biochemical, clinical, and longitudinal data may help refine risk stratification and reduce uncertainty in newborn screening. The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy Troy C. Lund, et al https://doi.org/10.1002/jimd.70157
• 
  Metabolic Mysteries: A 57-year-old man with vomiting and worsening confusion 05.05.2026 4min

  Too Much of a Good Thing - A 57-year-old man presents with rapidly progressive confusion, but the diagnosis isn’t where most adult physicians would look. Follow the step-by-step clinical reasoning with Dr Mark Wijnen and see if you can solve it. Read the paper: https://www.nejm.org/doi/full/10.1056/NEJMcps2510060
• 
  Nizubaglustat in GM2 Gangliosidosis 28.04.2026 22min

  In this episode, Kyle Landskroner and Jagdeep S. Walia talk about their paper on nizubaglustat in a mouse model of GM2 gangliosidosis. They explore how this brain-penetrant dual GCS/NLGase inhibitor improved survival, motor function, and neuroinflammatory markers in Sandhoff disease mice, and what that could mean for future therapies in GM2 disease. Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis Kyle Landskroner, Kshitiz Singh, Melissa Mitchell, Jagdeep S. Walia https://doi.org/10.1002/jimd.70130
• 
  Metabolic Mysteries: Recurrent abdominal pain, “FMF” and attacks around menstruation 21.04.2026 6min

  Dr Tanyel Zubarioglu discusses the case of a young woman with years of severe abdominal pain, neurological symptoms, anxiety, and repeated hospital visits, initially thought to represent familial Mediterranean fever. In this episode, we explore how a simple urine test during an acute attack changed everything, and why some metabolic diagnoses remain hidden in plain sight. Read the paper here: https://link.springer.com/article/10.1186/s13023-026-04308-3
• 
  Tyrosine Hydroxylase Deficiency: Consensus guidelines 14.04.2026 46min

  In this episode, Mariya Sigatullina Bondarenko, Thomas Opladen and Ivana Badnjarevic discuss the first international consensus guideline for tyrosine hydroxylase deficiency. They explore diagnosis, treatment, the move away from rigid subtype labels, and why patient experience matters in shaping better care. PROMs link 👉 https://www.proms-ntd.org Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency Mariya Sigatullina Bondarenko, et al https://doi.org/10.1002/jimd.70106
• 
  Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency 07.04.2026 4min

  Sophie Manoy discusses antenatal and neonatal management in carbonic anhydrase VA deficiency, based on a case series of two affected siblings managed from birth without decompensation. Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency Sophie Manoy, et al https://doi.org/10.1002/jmd2.70076
• 
  D-Glyceric aciduria: is GLYCTK really mitochondrial? 31.03.2026 16min

  A rare disorder, a surprisingly basic biological question, and a paper that revisits what GLYCTK actually does. Jörn Oliver Sass joins the podcast to discuss D-glyceric aciduria, mitochondrial localization of D-glycerate kinase, and why getting the fundamentals right still matters. Human D-Glycerate Kinase, Encoded by GLYCTK and Deficient in D-Glyceric Aciduria, Is a Mitochondrial Enzyme Anne Korwitz-Reichelt, et al https://doi.org/10.1002/jimd.70119