Classic homocystinuria: etiology, natural history and treatment

Classic homocystinuria is a rare autosomal recessive disorder of methionine metabolism resulting from deificiency cystathionine beta-synthase that involved in transsulfuration homocysteine. The caused by mutations CBS gene. Lack enzyme associated with accumulation homocysteine induce various toxicities, e.g. endothelial dysfunction and increased risk thrombosis. Clinical manifestations classic include ectopia lentis and/or severe myopia, skeletal abnormalities (marfanoid habitus, generalized osteoporosis bone deformity), mental retardation, seizures, psychiatric behavioral disorderts, venous arterial Some patients milder form the disease can present only thromboembolic events adulthood. Diagnosis should established biochemical (elevated plasma low cistathione) genetic (homozygous compound heterozygous gene) tests. Low diet, vitamin B6, folic acid betaine anhydrous, methylating agent, be used to reduce levels, prevent progression events.