JIMD Podcasts

Journal of Inherited Metabolic Disease

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

    vor 4 Tagen

    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

    6 Min.
  2. Feeding the Microbiome: Rethinking Protein and Propionate in MMA

    23. Juni

    Feeding the Microbiome: Rethinking Protein and Propionate in MMA

    How much of metabolic control in methylmalonic acidemia is determined by diet, and how much by the microbiome? In this episode, Engin Köse discusses a prospective longitudinal study exploring protein composition, gut microbial changes, and the impact of metronidazole on biochemical control in MMA. Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study Engin Köse, et al https://doi.org/10.1002/jimd.70172

    12 Min.
  3. Shortcast: Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB

    16. Juni

    Shortcast: Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB

    In this Shortcast Dr Mark Wijnen presents two cases where Teriparatide was used to treat bone complications in MPD IVB but explains how temporally associated cardiac disease compels his groups to advise caution in its use. Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB Mark Wijnen, Evert F. S. van Velsen, J. Gert-Jan Milhous, Esmee Oussoren, Bram C. J. van der Eerden, Margreet A. E. M. Wagenmakers First published: 13 April 2026 https://doi.org/10.1002/jmd2.70088

    4 Min.
  4. High Glycine, Different Diagnoses

    9. Juni

    High Glycine, Different Diagnoses

    A raised glycine level can point to a surprisingly broad range of conditions. In this episode, James Nurse is joined by Arthavan Selvanathan and Curtis Coughlin to discuss their review, The History and Nosology of the Glycine Disorders: A Framework for Clinicians. Together they explore why not all hyperglycinaemia is nonketotic hyperglycinaemia (NKH), how our understanding of glycine disorders has evolved, and how clinicians can navigate the differential diagnosis of elevated glycine in practice. From classic and attenuated NKH to lipoate deficiency syndromes, pyridoxine-related disorders, and important phenocopies such as valproate exposure, this episode provides a practical framework for approaching high glycine levels. The History and Nosology of the Glycine Disorders: A Framework for Clinicians Arthavan Selvanathan, et al https://doi.org/10.1002/jimd.70138

    24 Min.
  5. IMD Research Round-Up: Homocystinuria

    2. Juni

    IMD Research Round-Up: Homocystinuria

    Season 2 of the JIMD Research Round-Up begins with a deep dive into classical homocystinuria (CBS deficiency). Hosts Silvia Radenkovic and Rodrigo Starosta are joined by two internationally recognised experts, Dr Andrew Morris (Royal Manchester Children's Hospital, UK) and Professor Kim Chapman (Children's Hospital Los Angeles, USA). In this episode, they explore: - The clinical spectrum of homocystinuria, from childhood presentations to adults diagnosed after thrombosis - Why the condition is still frequently missed or misdiagnosed - The overlap with Marfan syndrome and the unanswered questions surrounding disease mechanisms - The strengths and limitations of current newborn screening programmes - Dietary treatment, pyridoxine responsiveness, and the challenges faced by patients and families - Emerging therapies including enzyme substitution therapy, chaperone therapies, and ongoing clinical trials - Why there is genuine optimism for the future of homocystinuria care and research A fascinating discussion covering six decades of progress in homocystinuria and the next generation of treatments that may transform care.

    42 Min.
  6. Revisiting D-Bifunctional Protein Deficiency

    26. Mai

    Revisiting D-Bifunctional Protein Deficiency

    A new international case series revisits the natural history of D-bifunctional protein deficiency, showing that survival into adolescence and adulthood is possible and that normal VLCFA levels do not exclude the diagnosis. Dr James Nurse speaks with Dr Unai Díaz-Moreno and Dr Spyros Batzios about expanding phenotypes, genotype–phenotype correlations, and the growing role of early genetic diagnosis. From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series U. Diaz-Moreno, et al https://doi.org/10.1002/jimd.70118

    20 Min.
  7. Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities

    19. Mai

    Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities

    Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an attenuated presentation delayed recognition of the underlying disorder for years. Read the paper: https://doi.org/10.1002/jmd2.70079

    6 Min.
  8. The Grey Zone in ABCD1 Variant Classification

    12. Mai

    The Grey Zone in ABCD1 Variant Classification

    Professor Troy Lund and Professor Stephan Kemp discuss the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy. The episode explores how integrating biochemical, clinical, and longitudinal data may help refine risk stratification and reduce uncertainty in newborn screening. The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy Troy C. Lund, et al https://doi.org/10.1002/jimd.70157

    33 Min.
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Info

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.

Informationen

  • Erstellt von
    Journal of Inherited Metabolic Disease
  • Jahre aktiv
    2020 - 2026
  • Folgen
    270
  • Bewertung
    Unbedenklich
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    JIMD Podcasts

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