A Recognized Risk Factor

摘要: Homocystinuria, a rare inborn error of metabolism, was originally described in Ireland 1962 by Carson and Neill survey mentally handicapped children. The most common genetic abnormality that can lead to homocystinuria is cystathionine β-synthase deficiency. This an autosomal recessive disorder which complications include ectopia lentis, bone abnormalities, including osteoporosis, mental retardation, atherosclerosis, thromboembolism. link between premature atherosclerosis thromboembolism seen many patients with homozygous has prompted greater interest this field. Hyperhomocysteinemia, defined as elevated level total homocysteine blood emerging prevalent strong risk factor for atherosclerotic vascular disease the coronary, cerebral, peripheral vessels, arterial venous chapter reviews mechanism possible relationship high plasma disease.