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JIMD Podcasts

JIMD Podcasts

Written by: Journal of Inherited Metabolic Disease
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 JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.All rights reserved Science
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
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