HeyJaredJIMD Podcasts
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.
- Indexed episodes, last 90 days
- 18
- Latest publication
- Sep 22, 2026
- Audience
- Checking…
- Earliest in this view
- Jul 7, 2026
Latest episodes
The Clinical Chameleons: Rethinking Remethylation Disorders (opens the original)
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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
Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics! (opens the original)
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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: Ataxia, tremor and a normal vitamin B12 (opens the original)
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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
Beyond Metabolic Control: Immune Dysregulation in Organic Acidemias (opens the original)
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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
Shortcast: Pregnancy in LPI Complicated by Immune Dysregulation and Severe Thrombocytopenia (opens the original)
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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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