title: Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977.
abstract: 1. Between 1971 to 1977, 74,521 urines, collected on filter paper and mailed in, were screened by the Metabolic Screening Program of the Children's Hospital. These represented 45.9% of live births in B.C. hospitals were the program has been available. The mean age of the infants was 4.4 weeks. Urines were examined by chromatography with ethyl acetate-pyridine-water for sugars. 1423 (2.13%) had an abnormal pattern necessitating a repeat urine card. A persistent abnormality was noted in 167 (0.22%) and from these a liquid urine sample was obtained for two dimensional amino acid chromatography and/or a repeat sugar chromatography. 2. In 47 (0.06%) of these a definite metabolic abnormality was confirmed. These included cases of Iminoglycinuria (8), Hartnup trait (4), Nonketotic hyperglycinemia (2), Histidinemia (1), Cystathioninuria (5), Argininosuccinic aciduria (1), Maple Syrup Urine Disease (1), Diabetes Mellitus (1), Renal glycosuria (1) and Persistent galactosuria (3). 201 infants had a slight increase of cystine and/or lysine, and 19 of these were documented to be heterozygous for cystinuria.
mesh_terms: D000596:Amino Acids / Q000652:urine*; D001955:British Columbia; D002241:Carbohydrates / Q000652:urine*; D002845:Chromatography; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011933:Reagent Kits, Diagnostic
chemical_list: D000596:Amino Acids; D002241:Carbohydrates; D011933:Reagent Kits, Diagnostic