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• W128732702 abstract "Homocystinuria, a rare inborn error of metabolism, was originally described in Ireland in 1962 by Carson and Neill in a survey of mentally handicapped children. The most common genetic abnormality that can lead to homocystinuria is cystathionine β-synthase deficiency. This is an autosomal recessive disorder in which complications include ectopia lentis, bone abnormalities, including osteoporosis, mental retardation, atherosclerosis, and thromboembolism. The link between premature atherosclerosis and thromboembolism seen in many patients with homozygous homocystinuria has prompted greater interest in this field. Hyperhomocysteinemia, defined as an elevated level of total homocysteine in blood is emerging as a prevalent and strong risk factor for atherosclerotic vascular disease in the coronary, cerebral, and peripheral vessels, and for arterial and venous thromboembolism. This chapter reviews the mechanism for the possible relationship between high plasma homocysteine and vascular disease." @default.
• W128732702 created "2016-06-24" @default.
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• W128732702 date "2001-01-01" @default.
• W128732702 modified "2023-09-23" @default.
• W128732702 title "A Recognized Risk Factor" @default.
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• W128732702 doi "https://doi.org/10.1007/978-1-59259-001-8_12" @default.
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