Birth prevalence of homocystinuria.
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- Record sourced from PubMed, PMID 15192637.
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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.
Medical subject headings
- Cystathionine beta-Synthase
- Homocystinuria
- Mutation