[Pathological and biochemical studies on a neonatal case of argininosuccinic aciduria (author's transl)].
A newborn infant affected by argininosuccinic aciduria was treated with a hypoproteinaemic diet and survived up to the age of three months. Post mortem biochemical studies have confirmed the absence of argininosuccinase activity in kidney, liver and brain and a marked storage of argininosuccinic acid in the brain. The histological study of the central nervous system shows no Alzheimer type II cells; there is neither demyelination nor spongiosis. Such results are totally different from those recorded in untreated cases; they represent very likely the effects of the diet which has controlled the hyperammoniaemia and prevented a deficiency of arginine.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000652:urine*; D056807:Argininosuccinic Aciduria; D001923:Brain Chemistry; D002421:Caudate Nucleus / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008055:Lipids / Q000032:analysis
D008055:Lipids; D001125:Argininosuccinic Acid; D001120:Arginine
Etude anatomo-biochimique d'un cas néo-natal d'arginino-succinylurie