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[Glutaric aciduria. 1 new case].

D Floret, P Divry, N Dingeon

    Archives Francaises De Pediatrie
    |May 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Glutaric aciduria is a rare metabolic disorder causing severe neurological symptoms and liver issues in children. Early diagnosis is crucial for affected children presenting with unexplained neurological decline or Reye's-like illness.

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    Area of Science:

    • Biochemistry
    • Metabolic Disorders
    • Pediatric Neurology

    Background:

    • Glutaric aciduria is an inherited metabolic disorder affecting amino acid metabolism.
    • It is caused by a deficiency in the enzyme glutaryl-CoA dehydrogenase.
    • This deficiency leads to the accumulation of toxic metabolites, primarily glutaric acid.

    Observation:

    • A 4-year-old girl with mild mental retardation presented with acute neurological deterioration, including convulsions, coma, and hepatomegaly.
    • Biochemical analysis revealed hypoglycemia, metabolic acidosis, generalized aminoaciduria, and elevated alpha-amino adipic acid.
    • Massive excretion of glutaric and glutaconic acids was observed in urine.

    Findings:

    • The diagnosis of glutaric aciduria was confirmed by demonstrating deficient glutaryl-CoA dehydrogenase activity in liver tissue.

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  • Key biochemical markers included elevated plasma and urine alpha-amino adipic acid and significant glutaric aciduria.
  • The clinical presentation mimicked Reye's syndrome, highlighting diagnostic challenges.

    • Implications:

    • Glutaric aciduria should be considered in the differential diagnosis of children with progressive neurological disorders, such as dystonia and choreoathetosis.
    • Recognition of this condition is vital for timely intervention and management to prevent severe neurological damage.
    • This case underscores the importance of biochemical screening in pediatric patients with unexplained encephalopathy and metabolic derangements.