[Glutaric aciduria. 1 new case].
A 4 year old girl with mild mental retardation presented with convulsions, coma and hepatomegaly. She died rapidly. The main biochemical findings were hypoglycaemia, metabolic acidosis, generalised aminoaciduria, elevation of the plasma and urine alpha-amino adipic acid, massive urine excretion of glutaric and glutaconic acids with traces of alpha-hydroxyglutaric acid. The diagnosis of glutaric aciduria was confirmed by the low activity of glutaryl CoA dehydrogenase in liver tissue. This diagnosis should be considered in children with progressive neurological disorders (dystonia, choreoathetosis) and in children with an illness similar to Reye's syndrome.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008099:Liver / Q000201:enzymology; D009422:Nervous System Diseases / Q000209:etiology
D005977:Glutarates
Acidurie glutarique. Une nouvelle observation.