作者: Robert Clarke , Leslie Daly , Killian Robinson , Eileen Naughten , Seamus Cahalane
DOI: 10.1056/NEJM199104253241701
关键词: Hyperhomocysteinemia 、 Vascular disease 、 Endocrinology 、 Medicine 、 Methionine 、 Risk factor 、 Homocysteine 、 Cystathionine beta synthase 、 Homocystinuria 、 Odds ratio 、 Internal medicine 、 General Medicine
摘要: Abstract Background. Hyperhomocysteinemia arising from impaired methionine metabolism, probably usually due to a deficiency of cystathionine β-synthase, is associated with premature cerebral, peripheral, and possibly coronary vascular disease. Both the strength this association its independence other risk factors for cardiovascular disease are uncertain. We studied extent which could be explained by heterozygous β-synthase deficiency. Methods. first established diagnostic criterion hyperhomocysteinemia comparing peak serum levels homocysteine after standard methionine-loading test in 25 obligate heterozygotes respect (whose children were known homozygous homocystinuria enzyme defect) 27 unrelated age- sex-matched normal subjects. A level 24.0 μmol per liter or more was 92 percent sensitive 100 specific distinguishing two groups. The ...