Épisodes

  • Adenosine Kinase

    Adenosine Kinase
    Sep 9 2025
    What if one enzyme could link metabolism, epigenetics, and therapy across conditions as diverse as epilepsy, cancer, and inflammation? In this episode, we dive into the fascinating world of adenosine kinase (ADK), an ancient enzyme that controls adenosine levels, energy balance, and even DNA methylation. Dr Detlev Boison join us to discuss their recent review in the Journal of Inherited Metabolic Disease, which reframes ADK not just as a metabolic regulator, but as a potential epigenetic drug target. From seizure suppression to cancer immunology, ADK sits at a crossroads, and could be a future key to metabolic and epigenetic medicine. Adenosine Kinase: An Epigenetic Modulator and Drug Target Uchenna Peter-Okaka, Detlev Boison https://doi.org/10.1002/jimd.70033
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    24 min
  • Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari

    Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari
    Sep 2 2025
    The first updated Footprints article requires two guests to do it justice - Dr Dakota Peacock and Dr Darius Ebrahimi-Fakhari join Eva Morava to discuss movement disorders in Inherited Metabolic Disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2025.109084 Find IMDs associated with psychiatric presentations at: https://www.iembase.org/gamuts/store/docs/Movement_disorders_update.pdf
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    21 min
  • Metabolic mysteries: Incidental adrenal calcifications in a neonate

    Metabolic mysteries: Incidental adrenal calcifications in a neonate
    Aug 26 2025
    A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery. Read the full report here: https://doi.org/10.1136/bcr-2025-265278
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    6 min
  • The treatment landscape in CDG

    The treatment landscape in CDG
    Aug 19 2025
    In this episode, we speak with Irena Muffels and Eva Morava about their recent review, The Therapeutic Future for Congenital Disorders of Glycosylation. We explore the three pillars they propose for advancing CDG treatment: improving disease models, enhancing clinical trial readiness, and finding scalable strategies that move us beyond one-gene-at-a-time approaches. From patient-derived brain organoids to AI-powered outcome assessments and the promise of basket trials, this conversation is a sweeping tour through the innovations shaping the future of CDG care. The Therapeutic Future for Congenital Disorders of Glycosylation I. J. J. Muffels, T. Kozicz, E. O. Perlstein, E. Morava https://doi.org/10.1002/jimd.70011
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    31 min
  • IMD Research Round-Up: Newborn Screening

    IMD Research Round-Up: Newborn Screening
    Aug 12 2025
    In this episode, Prof Chris Vorster (Director, Centre for Human Metabolomics, North-West University, South Africa), Sarah Viall (Assistant Professor, Molecular and Medical Genetics, Oregon Health & Science University, USA) and PD Dr. med. Ulrike Mütze (Consultant, Heidelberg University Hospital, Germany) join Silvia Radenkovic and Rodrigo Starosta to explore the evolving landscape of newborn screening. They discuss national and international variations in practice, how to maintain consistency and quality, and the future scope of testing – including opportunities to improve access in resource-limited settings. Authors’ opinions are their own and do not represent their institutions. Referenced papers include: Newborn screening in South Africa: the past, present, and plans for the future. Malherbe et al (2024) Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. McHugh et al (2024) Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon. Viall & Held (2025) Long-term outcomes of adolescents and young adults identified by metabolic newborn screening. Mütze et al (2025) Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening. Mengler et al (2024) Vitamin B12 Deficiency Newborn Screening. Mütze et al (2024) The role of exome sequencing in newborn screening for inborn errors of metabolism. Adhikari et al (2020)
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    45 min
  • ARS1 Deficiencies

    ARS1 Deficiencies
    Aug 5 2025
    In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders. Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects Eva M. M. Hoytema van Konijnenburg, et al https://doi.org/10.1002/jimd.70017
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    21 min
  • Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD

    Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD
    Jul 29 2025
    Marya Sabir shares new insights into the utility of leukocyte sialic acid levels as a diagnostic and monitoring tool in free sialic acid storage disorder. Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder Marya S. Sabir, et al https://doi.org/10.1002/jmd2.70029
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    4 min
  • Diagnostic delay in Metachromatic Leukodystrophy

    Diagnostic delay in Metachromatic Leukodystrophy
    Jul 22 2025
    Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough. Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach Ali Mohajer, et al https://doi.org/10.1002/jimd.70049
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    22 min