Episodios

  • Tyrosine Hydroxylase Deficiency: Consensus guidelines

    Tyrosine Hydroxylase Deficiency: Consensus guidelines
    Apr 14 2026
    Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency Mariya Sigatullina Bondarenko, et al https://doi.org/10.1002/jimd.70106
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    47 m
  • Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency

    Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
    Apr 7 2026
    Sophie Manoy discusses antenatal and neonatal management in carbonic anhydrase VA deficiency, based on a case series of two affected siblings managed from birth without decompensation. Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency Sophie Manoy, et al https://doi.org/10.1002/jmd2.70076
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    4 m
  • D-Glyceric aciduria: is GLYCTK really mitochondrial?

    D-Glyceric aciduria: is GLYCTK really mitochondrial?
    Mar 31 2026
    A rare disorder, a surprisingly basic biological question, and a paper that revisits what GLYCTK actually does. Jörn Oliver Sass joins the podcast to discuss D-glyceric aciduria, mitochondrial localization of D-glycerate kinase, and why getting the fundamentals right still matters. Human D-Glycerate Kinase, Encoded by GLYCTK and Deficient in D-Glyceric Aciduria, Is a Mitochondrial Enzyme Anne Korwitz-Reichelt, et al https://doi.org/10.1002/jimd.70119
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    17 m
  • Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features

    Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features
    Mar 24 2026
    Dr Rory J. Tinker discusses diagnostic delay in mitochondrial disease, showing that most delays occur before clinical suspicion, despite canonical features being documented years earlier. The study highlights opportunities to shorten the diagnostic odyssey through earlier recognition and informatics approaches. Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features Rory J. Tinker, et al https://doi.org/10.1002/jmd2.70068
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    5 m
  • mRNA therapies in liver Inherited Metabolic Diseases

    mRNA therapies in liver Inherited Metabolic Diseases
    Mar 17 2026
    mRNA therapy is emerging as a serious therapeutic platform for liver inherited metabolic diseases. In this episode, James Nurse speaks with Sonam Gurung and Julien Baruteau about their JIMD paper exploring how mRNA can be used for protein replacement, how lipid nanoparticles help target the liver, and where this approach may complement gene therapy, transplantation and standard care. A clear look at a rapidly evolving field. Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases Sonam Gurung, et al https://doi.org/10.1002/jimd.70078
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    37 m
  • Shortcast: Epilepsy Phenotype and EEG Finding of RHADS in Succinate Dehydrogenase Deficiency

    Shortcast: Epilepsy Phenotype and EEG Finding of RHADS in Succinate Dehydrogenase Deficiency
    Mar 10 2026
    Dr Aaron B. Bowen explores epilepsy and EEG features in succinate dehydrogenase (complex II) deficiency, focusing on refractory epilepsy and the presence of RHADS, an EEG pattern more commonly associated with POLG-related disease, and what this means for diagnosis and differential thinking in mitochondrial disorders. Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency Aaron B. Bowen, et al https://doi.org/10.1002/jmd2.70072
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    3 m
  • Beyond Triheptanoin: Elamipretide and Cardiolipin Remodeling in TFP Deficiency

    Beyond Triheptanoin: Elamipretide and Cardiolipin Remodeling in TFP Deficiency
    Mar 3 2026
    We talk with Eduardo Vieira Neto about elamipretide in mitochondrial trifunctional protein deficiency and the emerging role of cardiolipin remodeling beyond classic fatty-acid oxidation. Could this offer an add-on approach for complications that triheptanoin doesn’t fully address? Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts Eduardo Vieira Neto, et al https://doi.org/10.1002/jimd.70132
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    21 m
  • Shortcast: Treatable Neonatal MoCD Type A: Rapid Demise Despite Rapid Biochemical Diagnosis

    Shortcast: Treatable Neonatal MoCD Type A: Rapid Demise Despite Rapid Biochemical Diagnosis
    Feb 24 2026
    Dr Molly Crenshaw shares a powerful neonatal case of treatable molybdenum cofactor deficiency, where rapid biochemical diagnosis preceded molecular confirmation—but the infant deteriorated before disease-altering therapy could be started. This Shortcast highlights the critical value of urgent biochemical testing, evolving therapies, and the narrowing window for intervention in severe neonatal metabolic disease. Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis Molly M. Crenshaw, et al First published: 11 January 2026 https://doi.org/10.1002/jmd2.70061
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    5 m