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Riboflavin-responsive ethylmalonic-adipic aciduria.

A Green, T G Marshall, M J Bennett

    Journal of Inherited Metabolic Disease
    |January 1, 1985
    PubMed
    Summary
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    A patient with Reye's syndrome-like symptoms showed a unique organic acid pattern. Riboflavin treatment improved the condition, suggesting a role for this vitamin in ethylmalonic-adipic aciduria.

    Area of Science:

    • Biochemistry
    • Metabolic Disorders
    • Genetics

    Background:

    • Reye's syndrome is a rare but serious condition that causes swelling in the liver and brain.
    • Ethylmalonic-adipic aciduria is a rare metabolic disorder characterized by the accumulation of specific organic acids in the urine.

    Observation:

    • A patient presented with clinical symptoms mimicking Reye's syndrome.
    • Urinary organic acid analysis revealed a pattern consistent with ethylmalonic-adipic aciduria.
    • The patient showed a positive clinical response to riboflavin supplementation.

    Findings:

    • Fibroblast cultures from the patient demonstrated impaired butyrate oxidation in riboflavin-deficient conditions.
    • This suggests a potential biochemical link between riboflavin metabolism and ethylmalonic-adipic aciduria.

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  • The findings highlight riboflavin's crucial role in the metabolic pathway affected in this patient.

    • Implications:

    • Riboflavin supplementation may be a viable therapeutic strategy for patients with this specific organic aciduria.
    • Further research into the enzymatic defect and the role of riboflavin is warranted.
    • This case broadens the understanding of metabolic disorders presenting with Reye's-like symptoms.