Premium
DETECTION OF ABNORMAL SULPHUR‐CONTAINING AMINO ACID EXCRETION IN A MASS URINE‐SCREENING PROGRAMME
Author(s) -
Wilcken Bridget,
Turner Brian,
Brown D. A.
Publication year - 1972
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1972.tb116567.x
Subject(s) - urine , cystine , excretion , methionine , homocystinuria , urinary system , incidence (geometry) , chemistry , amino acid , medicine , chromatography , endocrinology , biochemistry , cysteine , enzyme , mathematics , geometry
A well‐baby population of 41,811 was screened for the abnormal urinary excretion of sulphur‐containing amino acids. Using a simple paper chromatographic method involving sequential staining, cases of homocystinuria, cystathioninuria and hypermethioninuria were detected. The total number of cases, excluding abnormalities of cystine excretion, was 26, which gives an incidence of 0.65 per 1,000. The sensitivity of the method is such that concentrations of 2 mg/100 ml of homocystine or methionine in urine were always detected. The method is simple and appears suitable for incorporation into routine urinary screening programmes.