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. 5d ago

    IMD Research Round-Up: HFI & fructose metabolism

    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

    IMD Research Round-Up: HFI & fructose metabolism

  2. Oct 1

    Shortcast: Characterization of Adult Patients With Neurometabolic Disorders

    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

    Shortcast: Characterization of Adult Patients With Neurometabolic Disorders

  3. Sep 28

    Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)

    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

    Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)

  4. Sep 22

    The Clinical Chameleons: Rethinking Remethylation Disorders

    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

    The Clinical Chameleons: Rethinking Remethylation Disorders

  5. Sep 17

    Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics!

    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

    Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics!

  6. Sep 14

    Metabolic Mysteries: Ataxia, tremor and a normal vitamin B12

    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

    Metabolic Mysteries: Ataxia, tremor and a normal vitamin B12

  7. Sep 8

    Beyond Metabolic Control: Immune Dysregulation in Organic Acidemias

    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

    Beyond Metabolic Control: Immune Dysregulation in Organic Acidemias

  8. Sep 3

    Shortcast: Pregnancy in LPI Complicated by Immune Dysregulation and Severe Thrombocytopenia

    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

    Shortcast: Pregnancy in LPI Complicated by Immune Dysregulation and Severe Thrombocytopenia
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5
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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
    291
  • Rating
    Clean
  • Copyright
    © All rights reserved
  • Show Website
    JIMD Podcasts

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