Episodes

  • Personalized metabolic modeling in Methylmalonic Aciduria

    Personalized metabolic modeling in Methylmalonic Aciduria
    Feb 17 2026
    A systems-level exploration of methylmalonic aciduria using personalized genome-scale metabolic models. Featuring Almut Heinken, Vito Zanotelli, and Jean-Louis Guéant, discussing fibroblast transcriptomics, TCA cycle anaplerosis, heme biosynthesis flux, and the promise of multi-omics-guided precision medicine.
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    38 mins
  • Shortcast: Holocarboxylase Synthetase Deficiency: Second Case Report With Neonatal Cholestasis

    Shortcast: Holocarboxylase Synthetase Deficiency: Second Case Report With Neonatal Cholestasis
    Mar 10 2026
    In this Shortcast, Sophie Manoy summarises a newly reported case of holocarboxylase synthetase deficiency presenting with neonatal cholestatic liver disease. This is only the second such case described and highlights a possible genotype–phenotype correlation that broadens the recognised clinical spectrum of this rare but treatable disorder. Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease Sophie Manoy, et al https://doi.org/10.1002/jmd2.70051
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    4 mins
  • Vitamin and Cofactor Prescribing in Primary Mitochondrial Disease

    Vitamin and Cofactor Prescribing in Primary Mitochondrial Disease
    Mar 3 2026
    Supplement prescribing in primary mitochondrial disease is almost universal, yet highly individualised, stepwise, and non-uniform across regions and phenotypes, with real potential for tissue and pill-burden harm. This podcast features Dr Julia Neugebauer and Professor Shamima Rahman exploring findings of a recent MetabERN survey looking at what informs when clinicians start, monitor, and sometimes stop enzymes and co-factors, and how global registry and natural-history data may guide the field forward. Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey Julia Neugebauer, et al https://doi.org/10.1002/jimd.12805 And the editorial discussed: Should the "mitochondrial cocktail" be a default option? An opinion Peter W Stacpoole, Stephen D Cederbaum https://doi.org/10.1016/j.ymgme.2025.109264
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    31 mins
  • Shortcast: Fulminant Metabolic Crisis in GSDIa: Persistent Lactic Acidosis Despite Hypo Correction

    Shortcast: Fulminant Metabolic Crisis in GSDIa: Persistent Lactic Acidosis Despite Hypo Correction
    Jan 27 2026
    In this Shortcast, Dr Herodes Guzman discusses a striking case series of patients with GSDIa who developed fulminant metabolic crisis with persistent lactic acidosis despite correction of hypoglycaemia, raising concern for secondary mitochondrial dysfunction. He explores how these observations challenge conventional management and suggest a future role for mitochondrial-directed surveillance and therapies in GSD care. Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial Dysfunction Herodes Guzman, et al https://doi.org/10.1002/jmd2.70059
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    3 mins
  • Palliative care in inherited metabolic disease: an underutilised but essential service

    Palliative care in inherited metabolic disease: an underutilised but essential service
    Jan 20 2026
    Only around 18% of inherited metabolic diseases have disease-specific treatments, yet palliative care remains strikingly underused. In this episode, Anja Lee and Trine Tangeraas discuss a pan-European survey exploring access, barriers, and how earlier integration of palliative care can transform support for people living with IMDs. Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care Anja Lee, et al https://doi.org/10.1002/jimd.70095
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    22 mins
  • Shortcast: A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

    Shortcast: A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs
    Jan 13 2026
    Merve Yoldaş Çelik reviews pediatric cell trafficking disorders, a genetically diverse group that can mimic mitochondrial, lysosomal, and glycosylation disease. Using a 14-patient case series (including two novel variants), she highlights shared multisystem patterns and practical gene-specific clues to support a mechanism-based diagnostic approach. A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs Merve Yoldaş Çelik, et al https://doi.org/10.1002/jmd2.70053
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    5 mins
  • Manganese transporter disorders: diagnosis and treatment

    Manganese transporter disorders: diagnosis and treatment
    Jan 6 2026
    In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia. Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2 Sherry Fang, et al https://doi.org/10.1002/jimd.70031 Removal of Toxic Metabolites—Chelation: Manganese Disorders Hendrik Vogt, et al https://doi.org/10.1002/jimd.70107
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    26 mins
  • Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants

    Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
    Dec 30 2025
    Dr Jeremy Clark unpacks why leukodystrophy caused by biallelic HMBS variants does not respond to liver transplantation or hepatically targeted therapies, pointing instead to CNS-driven porphyrin toxicity and a need for entirely new management approaches. Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report Jeremy Clark, et al https://doi.org/10.1002/jmd2.70056
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    4 mins