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RMU

Uruguayan Medical Journal

ISSN: 1688-0390


Vol.20 - Nº 3 - Dic. 2004

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Type I glutaric aciduria: first national case report

BARREIRO A; REY A; GONZÁLEZ RABELINO G; LEMES A; GALIANA A; PELUFFO L
Rev Med Urug 2004; 20: 221-227
Full text (spanish) |  Full text (spanish) (New windows, pdf) | Abstract

Abstract

The first national clinical case of a child carrier a type I glutaric aciduria is reported on this paper. Type I glutaric aciduria is an inherited genetic disorder caused by a defect deshydrogenase mytocondrial glutaric-coenzime A, responsible for the metabolism of the amino acids lysine and tryptophan. The child presented with the classical form of the disease with neurologic symptoms involving the extrapiramidal system. 3-hydroxiglutaric acid defines diagnose, since it is specific to this affection. Treatment aims to prevent neurologic commitment in asymptomatic cases since brain damage is irreversible.