Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

摘要: Premature arteriosclerosis and thromboembolic events are well-known complications of homozygous homocystinuria due to cystathionine synthase deficiency. It is unknown whether heterozygosity for predisposes premature vascular disease. We explored the frequency excessive homocysteine accumulation after standardized methionine loading in 75 patients presenting with clinical signs ischemic disease before age 50:25 occlusive peripheral arterial disease, 25 cerebrovascular myocardial infarction. In seven each first two groups but none third group, was established on basis pathological homocysteinemia deficiency skin fibroblast cultures. Because normal population 1 70 at most, we conclude that this condition development causing intermittent claudication, renovascular hypertension,