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Glutaric aciduria type I presenting with hypoglycaemia.

D B Dunger, G J Snodgrass

    Journal of Inherited Metabolic Disease
    |January 1, 1984
    PubMed
    Summary
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    Glutaric aciduria (glutaryl CoA-dehydrogenase deficiency) in a child presented with neurological symptoms and hypoglycemia. Early diagnosis and treatment with riboflavin and a GABA analogue halted neurological decline.

    Area of Science:

    • Biochemistry
    • Pediatric Neurology
    • Metabolic Disorders

    Background:

    • Glutaryl CoA-dehydrogenase deficiency (GCDHD), also known as type I glutaric aciduria, is an inherited metabolic disorder affecting amino acid metabolism.
    • It can lead to severe neurological complications if left untreated.

    Observation:

    • A pediatric case presenting with bilateral subdural hydromas, progressive choreoathetosis, and dysarthria.
    • Diagnosis was established at 3.5 years during investigation for hypoglycemia.
    • Temporary adrenocortical insufficiency was also observed.

    Findings:

    • The patient received treatment with riboflavin and 'lioresal' (a GABA analogue).
    • Three years post-diagnosis, the adrenal insufficiency and hypoglycemia resolved.

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  • Neurological deterioration was prevented with the implemented treatment.

    • Implications:

    • This case highlights the importance of early diagnosis and intervention in glutaric aciduria.
    • Combination therapy may be effective in managing neurological symptoms and metabolic disturbances.
    • Further research into GCDHD management strategies is warranted.