Carriership for homocystinuria in juvenile vascular disease.
The frequency of pathological homocysteine accumulation after standardized methionine loading was investigated in 75 patients with clinical signs of ischemic disease before age 50: 25 with occlusive peripheral arterial disease, 25 with occlusive cerebrovascular disease, and 25 with myocardial infarction. On the basis of abnormally high homocysteinemia after methionine loading and cystathionine synthase deficiency in fibroblast cultures, carriership for homocystinuria could be established in 7 patients in each of the first two groups, however in none of the patients in the third group. This high frequency of heterozygosity compared with the frequency of 1 in 70 at the most in the normal population leads to the conclusion that such carriership predisposes to the development of premature occlusive arterial disease.
Boers
G H
GH
Department of Medicine, University Hospital Nijmegen, The Netherlands.
D000367:Age Factors; D006580:Genetic Carrier Screening; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D014652:Vascular Diseases / Q000235:genetics*