Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency

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 cyanide-nitroprusside 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 autoanalyser in newborn infants with hypermethioninaemia until the enzyme defect is identified.