Birth prevalence of homocystinuria.
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.
Refsum
Helga
H
Department of Pharmacology, University of Oxford, United Kingdom. helga.refsum@pharmacology.oxford.ac.uk
Fredriksen
Ase
A
Meyer
Klaus
K
Ueland
Per M
PM
Kase
Bengt Frode
BF
D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D006712:Homocystinuria / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017720:Molecular Epidemiology; D009154:Mutation; D015997:Neonatal Screening; D009664:Norway / Q000453:epidemiology; D015995:Prevalence
D003541:Cystathionine beta-Synthase