Revista Médica del Uruguay
versión impresa ISSN 0303-3295
BARREIRO, Ana et al. Aciduria glutárica tipo I: Descripción del primer caso clínico nacional. Rev. Méd. Urug. [online]. 2004, vol.20, n.3, pp. 221-227. ISSN 0303-3295.
Summary 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.
Palabras llave : ERRORES INNATOS DEL METABOLISMO DE LOS AMINOÁCIDOS.