Episodes

  • Acute liver failure? Think metabolic

    Acute liver failure? Think metabolic
    May 10 2024
    When might acute liver failure have a metabolic cause? Dr Robert Hegarty tries to answer this question and more following his recent review article on Genetic aetiologies of acute liver failure. Genetic aetiologies of acute liver failure Robert Hegarty, Richard J. Thompson https://doi.org/10.1002/jimd.12733
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    10 mins
  • Aicardi-Goutières syndrome

    Aicardi-Goutières syndrome
    Apr 26 2024
    Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition. Nucleotide metabolism, leukodystrophies, and CNS pathology Francesco Gavazzi, et al https://doi.org/10.1002/jimd.12721
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    33 mins
  • Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital

    Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital
    Apr 19 2024
    Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital. Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital Gustavo Marquezani Spolador, et al https://doi.org/10.1002/jmd2.12417
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    5 mins
  • Pregnancy in Urea Cycle Disorders

    Pregnancy in Urea Cycle Disorders
    Apr 12 2024
    This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey Karolina M. Stepien, et al https://doi.org/10.1002/jimd.12695
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    17 mins
  • Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs

    Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs
    Apr 5 2024
    Mel McSweeney and Dr Mildrid Yeo briefly outline the approach to urea cycle disorder management and the Gt Ormond Street experience using glycerol phenylbutyrate as a nitrogen scavenger. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre Mildrid Yeo, et al https://doi.org/10.1002/jmd2.12386
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    9 mins
  • Liver directed gene therapy

    Liver directed gene therapy
    Mar 28 2024
    The podcast returns to the subject of gene therapy, with Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen discussing the potential of liver directed therapies with an emphasis on Wilson disease, Crigler-Najjar syndrome and PKU. Liver-directed gene therapy for inherited metabolic diseases Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen https://doi.org/10.1002/jimd.12709
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    34 mins
  • Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD

    Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD
    Mar 22 2024
    Dr Maren Thiel, Chair of the German speaking self-help group for fatty oxidation disorders, presents work completed with the Freiburg metabolic team looking at psychosocial issues and coping strategies in families affected by LC-FAOD. Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders Maren Thiel, et al https://doi.org/10.1002/jmd2.12402
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    7 mins
  • BH4 in tyrosine hydroxylase deficiency

    BH4 in tyrosine hydroxylase deficiency
    Mar 15 2024
    Listener feedback link: https://form.jotform.com/240459204544050 Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model. Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model Kunwar Jung-KC, Alba Tristán-Noguero, et al https://doi.org/10.1002/jimd.12702
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    16 mins