Birth prevalence of homocystinuria

J Pediatr. 2004 Jun;144(6):830-2. doi: 10.1016/j.jpeds.2004.03.004.

Abstract

Serious complications of homocystinuria caused by cystathionine beta-synthase deficiency can be prevented by early intervention. We determined the prevalence of 6 specific mutations in 1133 newborn blood samples. Our results suggest that homocystinuria is more common than previously reported. Newborn screening for homocystinuria through mutation detection should be further considered.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystathionine beta-Synthase / genetics*
  • Female
  • Homocystinuria / epidemiology*
  • Homocystinuria / genetics*
  • Humans
  • Infant, Newborn
  • Molecular Epidemiology
  • Mutation*
  • Neonatal Screening
  • Norway / epidemiology
  • Prevalence

Substances

  • Cystathionine beta-Synthase