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[Glutaric aciduria type I].

A B Ostensen1, O H Skjeldal, E Monn

  • 1Pediatrisk avdeling, Oslo.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|March 20, 1992
PubMed
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Glutaric aciduria type I, a metabolic disorder affecting lysine and tryptophane breakdown, presents with neurological symptoms. Early diagnosis and a low-protein diet are crucial for managing this condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Glutaric aciduria type I (GA-I) is an inherited metabolic disorder.
  • It stems from a defect in the catabolism of amino acids lysine and tryptophane.
  • Early symptoms can mimic encephalitis, progressing to movement disorders like choreoathetosis and spasticity.

Purpose of the Study:

  • To present five Norwegian patients diagnosed with Glutaric aciduria type I.
  • To describe the clinical presentation, diagnostic methods, and treatment outcomes.
  • To evaluate the impact of GA-I on cognitive and motor functions through neuropsychological assessment.

Main Methods:

  • Case series presentation of five Norwegian patients with GA-I.
  • Clinical data collection including early and later symptoms.

Related Experiment Videos

  • Diagnosis confirmed by detecting elevated glutaric acid in urine.
  • Neuropsychological examinations were performed on four patients.

    • Main Results:

    • The study details five Norwegian patients with Glutaric aciduria type I.
    • Clinical course is characterized by choreoathetosis, hyperkinesis, and spasticity.
    • Neuropsychological assessments indicated a more significant impact on motor functions compared to cognitive functions.

    Conclusions:

    • Glutaric aciduria type I requires early diagnosis and management.
    • Treatment involves a specialized low-protein diet low in lysine and tryptophane.
    • The condition predominantly affects motor functions, though cognitive impact also exists.