ISSN:
1432-1076
Keywords:
Homocystinuria
;
Homocystine
;
Methionine
;
Cystathionine synthase
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A boy with homocystinuria due to cystathionine synthase deficiency was found to have hypermethioninaemia by neonatal blood screening, but was not diagnosed as homocystinuric until 3 months of age because urinary homocystine was not detected by the cyanidenitroprusside test or on two examinations with a sensitive amino acid autoanalyser. These findings indicate that tests for urinary homocystine should be made repeatedly with an amino acid auto-analyser in newborn infants with hypermethioninaemia until the enzyme defect is identified.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00444959