Studies of blood phenylalanine in oligophrenic adults and severely mentally retarded children
Morisio Guidetti, L.; Desana, M.; De Candussio, G.
Bollettino della Societa Italiana di Biologia Sperimentale 53(10): 828-833
1977
ISSN/ISBN: 0037-8771 PMID: 588354 Document Number: 114345
Human subjects (448) with mental deficiency, between the ages of 3-55, were studied by the Guthrie Text for phenylalaninemia. Aminoaciduria tests were also made. Results were compared with a normal range of values. In only 3 cases phenylalaninuria values above 15 mg/100 ml were found (compared with a normal range of 0.52-1.28). There was also a reduction of the blood values of 3 essential amino acids: tyrosine, tryptophan and lysine, while glutamine values fell below normal. The aim is to detect such metabolic diseases in early childhood and treat them with diet low in phenylalanine before the age of full intellectual development. Of the 3 subjects identified, only 1 is a child (8 yr) who is now receiving a special diet.