JIMD Podcasts

Episodes

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  Shortcast: Glut1-Deficiency Syndrome: New Insights From a Brazilian Cohort of Patients 22.10.2026 6m

  Dr Lívia Ferreira Sobrinho and Dr Ida Schwartz share new insights into GLUT1 deficiency syndrome from a Brazilian cohort of 40 patients. They explore its varied clinical presentations, 15 previously unreported SLC2A1 variants, and the implications for early diagnosis, ketogenic dietary therapy and genetic counselling for families. Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients Lívia Maria Ferreira Sobrinho, et al https://doi.org/10.1002/jmd2.70113
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  Shortcast: Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency 19.10.2026 4m

  How do you manage gestational diabetes in a condition that predisposes to hypoglycaemia? Raashda A. Sulaiman discusses three successful pregnancies in women with fructose-1,6-bisphosphatase deficiency, exploring the balance between high and low blood glucose, the risk of lactic acidosis, and the importance of coordinated care through pregnancy, delivery and beyond. Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre Experience Raashda A. Sulaiman, et al https://doi.org/10.1002/jmd2.70116
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  Citrin deficiency: changing presentations, challenging assumptions 13.10.2026 48m

  Citrin deficiency challenges familiar assumptions about urea cycle disorders, from its changing clinical presentations to its distinctive dietary and emergency management. James Nurse speaks with Johannes Häberle, Saikat Santra and Barbara Yu of the Citrin Foundation, with contributions from Jun Kido, to explore diagnosis and care across the lifespan, differences between populations, and the evidence behind current treatments. The discussion also questions the misleading idea of a ‘silent’ phase. Interviews with adults living with citrin deficiency reveal symptoms and effects on daily life that can escape routine clinical assessment. We consider what these experiences mean for recognising disease burden, measuring meaningful treatment outcomes and putting patients at the centre of research, before looking ahead to better biomarkers, earlier diagnosis and future therapies. The therapeutic landscape of citrin deficiency Toni Vuković, et al https://doi.org/10.1002/jimd.12768 Citrin deficiency—The East-side story Johannes Häberle https://doi.org/10.1002/jimd.12772 Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition Jun Kido, et al https://doi.org/10.1002/jimd.12722 Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study Yurika Asami, et al https://doi.org/10.1016/j.ymgme.2026.110141
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  IMD Research Round-Up: HFI & fructose metabolism 06.10.2026 45m

  Professor David Cassiman, Professor of Hepatology and Inherited Metabolic Diseases at KU Leuven, and Dr Martijn Brouwers, internist-endocrinologist and Head of the Division of Endocrinology and Metabolic Disease at Maastricht University Medical Center, join Rodrigo Starosta and Silvia Radenkovic to discuss recent advances in fructose metabolism. From the challenges of dietary treatment in hereditary fructose intolerance to ketohexokinase inhibition, endogenous fructose production and the links between rare metabolic disease and MASLD, this Research Round-Up explores how studying inborn errors of fructose metabolism can provide insights far beyond rare disease. Authors’ opinions are their own and do not represent their institutions. The papers discussed include: Treatment preferences of adult patients with hereditary fructose intolerance: A discrete choice experiment. Janssen et al Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intolerance. Koene et al Rare monogenic causes of steatotic liver disease masquerading as MASLD. Brouwers & Cassiman Endogenous fructose production in patients and mice with aldolase B deficiency. Buziau et al KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword. Pinheiro et al Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Cortese et al
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  Shortcast: Characterization of Adult Patients With Neurometabolic Disorders 01.10.2026 3m

  Dr Boel Ernerdahl presents her groups observations around the make up of adult patients with neurometabolic disorders at a single centre in Sweden. Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann https://doi.org/10.1002/jmd2.70115
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  Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) 28.09.2026 3m

  One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions. In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn with markedly elevated citrulline, where distinguishing citrin deficiency from citrullinaemia type I became critical as initial treatment was followed by rapidly worsening liver failure. Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) Hoi-Yin Chan, et al https://doi.org/10.1002/jmd2.70110
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  The Clinical Chameleons: Rethinking Remethylation Disorders 22.09.2026 32m

  Remethylation disorders are clinical chameleons, presenting with neurological, psychiatric, ophthalmological, renal or multisystem disease. Professor Martina Huemer joins the JIMD Podcast to discuss the revised international guidelines, including when to measure total homocysteine, newborn screening and the move towards high-dose hydroxocobalamin. She also explains why shared treatment protocols are needed to strengthen the evidence behind future recommendations. First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders Giorgia Olivieri et al. https://doi.org/10.1002/jimd.70177
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  Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics! 17.09.2026 5m

  A young girl develops progressive neurological symptoms and a biomarker profile pointing strongly towards a particular metabolic disorder. There’s just one problem: the genetic testing is negative. In this Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing to finally crack the case. Can you solve it before she does? Read the paper: https://doi.org/10.1055/a-2903-9323
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  Metabolic Mysteries: Ataxia, tremor and a normal vitamin B12 14.09.2026 6m

  A 7-year-old boy presents following a suspected seizure, with a history of progressive ataxia and tremor. An MRI offers an important clue but a seemingly reassuring blood result complicates the picture. In this Metabolic Mystery, Dr Steven Lang follows the clues to uncover a treatable metabolic diagnosis. Can you solve the case before he does? Read the paper: https://doi.org/10.1542/pir.2025-007029
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  Beyond Metabolic Control: Immune Dysregulation in Organic Acidemias 08.09.2026 22m

  Cytopenias and infections are familiar complications of branched-chain organic acidemias, but are they simply consequences of metabolic decompensation? Abdul Shakerdi and Jerry Vockley join the JIMD Podcast to explore evidence that persistent immune dysfunction and inflammation may be fundamental parts of the disease phenotype, with implications for clinical care, research and emerging therapies. Immune Dysregulation in Branched Chain Organic Acidemias Abdul L. Shakerdi, et al https://doi.org/10.1002/jimd.70203
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  Shortcast: Pregnancy in LPI Complicated by Immune Dysregulation and Severe Thrombocytopenia 03.09.2026 4m

  In this JIMD Reports Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia. Hear how multidisciplinary management supported a favourable outcome for both mother and baby. Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia Eamon P. McCarron, et al https://doi.org/10.1002/jmd2.70109
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  Shortcast: JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy 31.08.2026 4m

  Could some mitochondrial disorders also be treatable interferonopathies? In a new JIMD Reports Shortcast, Dan Brooks and Fernando Scaglia look at a fascinating case of PNPT1-related mitochondrial disease in which mitochondrial dysfunction was accompanied by activation of the type I interferon pathway. Treatment with the JAK inhibitor tofacitinib normalised the interferon signature and was associated with improvements in biochemical and clinical measures. As a single case it is necessarily preliminary, but it provides an intriguing example of how understanding the crosstalk between mitochondria and the immune system might open up new therapeutic approaches. JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk Dan Ross Brooks, et al https://doi.org/10.1002/jmd2.70096
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  Helsinki: Day 4 - New friends, fond farewells, and Dublin calling 28.08.2026 22m

  In the fifth, and thankfully final, update from Helsinki, James and Silvia return to provide their inimitable take on the sessions from Thursday with a look ahead to Friday’s sessions. They find themselves looking well beyond the last day, as James speaks with Dr Ina Knerr about preparations for the SSIEM 2027 meeting in Dublin. James gets yet another geography lesson and we hear from a bumper helping of conference attendees finally keen to discuss their posters. So long Helsinki, it’s been wonderful.
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  Helsinki: Day 3 - Don't know much about history (or geography and physics) 27.08.2026 24m

  James and Silvia return for the 4th episode of their increasingly confusing daily podcast from the SSIEM 2026 annual meeting in Helsinki. The flood gates have finally opened and we hear from multiple guest about their posters and presentations, and Dr Nazi Tabatadze caught up with James to give him a quick geography lesson and discuss IMD care in Georgia. You've just one more day to be part of the podcast so say hello or forever wonder about the life of fame and fortune that you let slip away.
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  Helsinki: Day 2 - Long posters, short sessions, and restroom rendezvous 26.08.2026 13m

  Silvia and James reflect on the first full day of the SSIEM 2026 meeting and look ahead to day 2. They check in with Rodrigo to find out why he can't be Helsinki and welcome a number of contributors who encourage you to come and see their posters. Remember, there are now just two days left to be a part of the podcast no-one asked for... find them, before they find you.
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  Helsinki: Day 1 - Geeks, mentors and Azerbaijan 25.08.2026 18m

  Hosts Silvia Radenkovic and James Nurse return to introduce the first 'proper' day of the SSIEM 2026 meeting. In addition to highlighting some of the unsung highlights of Day 1 (lab proficiency testing anyone), Silvia makes her case as a mentor and James speaks with Dr Narmin Aslanzade and Dr Leman Alirzayeva about IMD services in Azerbaijan and the posters they're bringing to SSIEM 2026. As always, Silvia and James would love to hear from you so if you're at the meeting and want to shout about your poster, please get in touch.
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  Helsinki: Day 0 - Saunas, sequencing and special sessions 24.08.2026 22m

  The "podcast no one asked for" is back as hosts Silvia Radenkovic and James Nurse preview the 2026 SSIEM Annual Meeting, and they are joined by meeting chair Risto Lapatto to discuss what goes in to arranging an international IMD conference, the sessions he doesn't want to miss and why you have to try a sauna. We want to hear from you across the week so if you've got a poster in Helsinki please get in touch and we will find you!!
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  The Adult PKU brain: from phenylalanine exposure to brain aging 18.08.2026 40m

  Raphaela Muri and Roman Trepp join the JIMD Podcast to explore what happens to the adult brain in phenylketonuria. We discuss the effects of phenylalanine exposure on brain structure, what MRI studies reveal about potentially reversible changes, how these findings relate to cognition, and whether the latest evidence really suggests altered brain ageing in early-treated PKU. Papers discussed and related work Brain Age in Adult Patients With Early-Treated Phenylketonuria Winiger et al. https://doi.org/10.1002/jimd.70158 Neural Correlates of Working Memory and Its Association With Metabolic Parameters in Early-Treated Adults With Phenylketonuria Abgottspon et al. https://doi.org/10.1016/j.nicl.2022.102974 Cortical Thickness and Its Relationship to Cognitive Performance and Metabolic Control in Adults With Phenylketonuria Muri et al. https://doi.org/10.1002/jimd.12561 Do Early-Treated Adults With Phenylketonuria Sense High Phenylalanine Levels? Hauri et al. https://doi.org/10.1002/jmd2.12446 Cerebral Blood Flow and White Matter Alterations in Adults With Phenylketonuria Steiner et al. https://doi.org/10.1016/j.nicl.2023.103550 Reversible White Matter Changes Following a 4-Week High Phenylalanine Exposure in Adults With Phenylketonuria Muri et al. https://doi.org/10.1002/jimd.12823 Transient Brain Structure Changes After High Phenylalanine Exposure in Adults With Phenylketonuria Muri et al. https://doi.org/10.1093/brain/awae139 Cognition After a 4-Week High Phenylalanine Intake in Adults With Phenylketonuria – A Randomized Controlled Trial Trepp et al. https://doi.org/10.1016/j.ajcnut.2023.11.007 Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria? Vallesi et al. https://doi.org/10.1002/jmd2.70108
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  IMD Research Round-Up: Sterols and Bile Acids 11.08.2026 49m

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

  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