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Related Experiment Videos

Glycine therapy in isovaleric acidemia.

M Yudkoff, R M Cohn, R Puschak

    The Journal of Pediatrics
    |May 1, 1978
    PubMed
    Summary

    Oral glycine effectively treats isovaleric acidemia in a child. Glycine supplementation prevents harmful acid buildup by promoting the excretion of toxic compounds.

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    Area of Science:

    • Biochemistry
    • Metabolic Disorders
    • Pediatric Medicine

    Background:

    • Isovaleric acidemia is a rare genetic metabolic disorder affecting leucine metabolism.
    • Patients experience toxic buildup of isovaleric acid and related metabolites, leading to ketoacidosis.
    • Current management strategies focus on dietary leucine restriction.

    Observation:

    • A 3-year-old girl with isovaleric acidemia was studied.
    • Leucine challenge increased blood levels of isovaleric, lactic, and pyruvic acids, and urinary ketone excretion.
    • Co-administration of glycine with leucine prevented these metabolic derangements.

    Findings:

    • Glycine supplementation significantly enhanced the formation and rapid urinary excretion of isovalerylglycine, a non-toxic conjugate.
    • Simultaneous administration of leucine and glycine increased isovalerylglycine excretion threefold.
    • Chronic glycine therapy was well-tolerated and potentially prevented ketoacidosis episodes.

    Implications:

    • Oral glycine represents a promising therapeutic strategy for isovaleric acidemia.
    • Glycine supplementation may mitigate metabolic crises in patients with isovaleric acidemia.
    • This approach offers a novel adjunct to dietary management for inborn errors of metabolism.

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