title: Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.
abstract: Urine from 348 patients of a hospital for the mentally handicapped in Wessex was screened for abnormalities of aminoacid and mucopolysaccharide excretion. Persistent aminoacid abnormalities were found in 16 patients: two had phenylketonuria and one a severe variant form of hyperphenylalaninaemia (dihydropteridine reductase deficiency). In at least nine of the other patients, the observed abnormality was probably a secondary phenomenon. Two patients excreted excessive amounts of a glycosaminoglycan identified tentatively as hyaluronic acid. The study also uncovered one undiagnosed diabetic and three patients with urinary tract infection.
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D000596:Amino Acids / Q000652:urine; D003555:Cystinuria / Q000150:complications; D004588:Electrophoresis, Cellulose Acetate / Q000379:methods; D004739:England; D005260:Female; D005998:Glycine / Q000652:urine; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000378:metabolism / Q000652:urine*; D008239:Lysine / Q000652:urine; D008297:Male; D008875:Middle Aged; D010661:Phenylketonurias / Q000150:complications
chemical_list: D000596:Amino Acids; D006025:Glycosaminoglycans; D008239:Lysine; D005998:Glycine