Episodios

  • Flies, plants and classic galactosemia

    Flies, plants and classic galactosemia
    Aug 30 2024
    Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. melanogaster model of classic galactosemia Jennifer M. I. Daenzer, et al https://doi.org/10.1002/jimd.12774
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    21 m
  • Fatty acid homeostasis

    Fatty acid homeostasis
    Aug 16 2024
    Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately. Disorders of fatty acid homeostasis Frédéric M. Vaz, et al https://doi.org/10.1002/jimd.12734
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    18 m
  • Metabolic mysteries: Progressive neurological symptoms after a change in diet

    Metabolic mysteries: Progressive neurological symptoms after a change in diet
    Aug 9 2024
    Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. Find full details here: https://doi.org/10.1002/jmd2.12427
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    7 m
  • Heterozygous DHDDS variants

    Heterozygous DHDDS variants
    Aug 2 2024
    Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al https://doi.org/10.1002/jimd.12769
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    18 m
  • Footprints of IMD: Metabolic Epilepsies... with Phillip Pearl

    Footprints of IMD: Metabolic Epilepsies... with Phillip Pearl
    Jul 29 2024
    Professor Phillip Pearl joins Eva Morava to discuss the footprints of metabolic epilepsies and a very brief introduction to the intertwined nature of music and neurology. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2023.107690 Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/IMDs_presenting_with_epilepsies_010124.pdf
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    31 m
  • Gene replacement therapies for inherited disorders of neurotransmission: Progress in SSADH

    Gene replacement therapies for inherited disorders of neurotransmission: Progress in SSADH
    Jul 19 2024
    Dr Henry Lee joins the podcast to discuss the challenges of developing gene therapies for inherited disorders of neurotransmission and shares the progress that his group has made with SSADH deficiency. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency Henry H. C. Lee, et al https://doi.org/10.1002/jimd.12735
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    18 m
  • Shortcast: Galactokinase 1 is the source of elevated gal-1-phosphate in a galactosemia mouse model

    Shortcast: Galactokinase 1 is the source of elevated gal-1-phosphate in a galactosemia mouse model
    Jul 12 2024
    Dr Tom Hartl discusses his group's work with a mouse model that knocks out both GALT and GALK and the insights that this provides into classic galactosemia. Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia Linley Mangini, et al https://doi.org/10.1002/jmd2.12438
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    4 m
  • Dietary management for pyridoxine-dependent epilepsy

    Dietary management for pyridoxine-dependent epilepsy
    Jul 4 2024
    Marjorie Dixon and Annemiek van Wegberg join guest host Curtis Coughlin II to complete the treatment puzzle in pyridoxine dependent epilepsy and explain the role and practicalities of lysine restriction in PDE. Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines Marjorie Dixon, et al https://doi.org/10.1002/jmd2.12418
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    30 m