[Inherited abnormalities in amino acid metabolism].
Inherited abnormalities in amino-acid metabolism, which up to a few years ago remained curiosities in the domain of the specialist, are now becoming almost of everyday significance. Improved knowledge, as a result of the combined efforts of paediatricians, genetecists and biochemists, has led to substantial progress, both clinically (diagnosis and treatment) as well as in the understanding of intermediary metabolisms and enzyme reactions. This "jigsay puzzle", the pieces of which fall gradually into place, has already resulted in spectacular results, the best example of which is that of phenylketonuria. In the past this disease inevitably led to increasing brain damage and has now become a purely biochemical disorder wince early diagnosis and appropriate diet enable the young infant to become a normal child and remain a healthy adult. These data are illustrated here.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D000596:Amino Acids / Q000378:metabolism; D004798:Enzymes / Q000172:deficiency; D006801:Humans; D007231:Infant, Newborn; D010661:Phenylketonurias / Q000378:metabolism
D000596:Amino Acids; D004798:Enzymes
Les anomalies héréditaires du métabolisme des acides aminés.