JIMD Podcasts

Journal of Inherited Metabolic Disease
  • 5.0 (13)
  • Science
  • Updated Semimonthly

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.

  1. 4d ago

    The Adult PKU brain: from phenylalanine exposure to brain aging

    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

    The Adult PKU brain: from phenylalanine exposure to brain aging

  2. Aug 11

    Research Round-Up: Sterols and Bile Acids

    Research Round-Up: Sterols and Bile Acids by Journal of Inherited Metabolic Disease

    Research Round-Up: Sterols and Bile Acids

  3. Aug 4

    Beyond Metabolic Control: Optimising Nutrition in Inborn Errors of Protein Metabolism

    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

    Beyond Metabolic Control: Optimising Nutrition in Inborn Errors of Protein Metabolism

  4. Jul 28

    Shortcast: Adult Refsum: Reducing Circulating Phytanic Acid Levels With Dietary Interventions

    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

    Shortcast: Adult Refsum: Reducing Circulating Phytanic Acid Levels With Dietary Interventions

  5. Jul 21

    Hidden Disease or Uncertain Risk? Rethinking IMD Diagnosis and Newborn Screening

    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

    Hidden Disease or Uncertain Risk? Rethinking IMD Diagnosis and Newborn Screening

  6. Jul 14

    IMD Research Round-Up: Phenylketonuria

    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.

    IMD Research Round-Up: Phenylketonuria

  7. Jul 7

    Rapamycin and Pharmacogenomics in Niemann-Pick C

    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

    Rapamycin and Pharmacogenomics in Niemann-Pick C

  8. Jun 30

    Shortcast: Clinical Outcomes in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease

    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

    Shortcast: Clinical Outcomes in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
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About

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.

Information

  • Creator
    Journal of Inherited Metabolic Disease
  • Years Active
    2020 - 2026
  • Episodes
    277
  • Rating
    Clean
  • Copyright
    © All rights reserved
  • Show Website
    JIMD Podcasts

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