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3-Methylglutaconic aciduria in two infants.

B Hagberg, O Hjalmarson, S Lindstedt

    Clinica Chimica Acta; International Journal of Clinical Chemistry
    |October 31, 1983
    PubMed
    Summary

    Two children with a rare metabolic disorder showed developmental regression and organ damage. Their condition was not caused by a deficiency in hydroxymethylglutaryl-CoA lyase or methylglutaconyl CoA-hydratase.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatric Neurology

    Background:

    • Investigating rare genetic metabolic disorders in children.
    • Understanding the biochemical pathways of organic acidurias.
    • Characterizing neurodegenerative syndromes with early-onset failure-to-thrive.

    Observation:

    • Two children presented with failure-to-thrive, psychomotor regression, hypotonia, liver damage, optic atrophy, and spastic paraparesis after normal early development.
    • Elevated urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid was detected in both patients.
    • Reduced activity of hydroxymethylglutaryl-CoA lyase was observed in leukocytes and fibroblasts of one child.

    Findings:

    • The syndrome was not attributed to a deficiency in hydroxymethylglutaryl-CoA lyase, as evidenced by normal ketone body formation during fasting.

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  • Deficiency in methylglutaconyl CoA-hydratase was also excluded based on normal metabolism of isovaleric acid and leucine.
  • The specific enzyme deficiency underlying this organic aciduria remains unidentified.

    • Implications:

    • This study highlights a distinct organic aciduria presenting with severe neurological and systemic manifestations.
    • Further research is needed to identify the precise enzymatic defect in this rare metabolic disorder.
    • Accurate diagnosis is crucial for potential future therapeutic interventions and genetic counseling.