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.
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Watanabe, T., Kuroda, Y., Naito, E. et al. Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency. Eur J Pediatr 146, 436–438 (1987). https://doi.org/10.1007/BF00444959
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DOI: https://doi.org/10.1007/BF00444959