同型胱氨酸尿症是一种先天性氨基酸代谢障碍,为常染色体隐性遗传疾病。主要病因是胱疏醚合成障碍,致蛋氨酸代谢异常,血内同型胱氨酸蓄积,从尿中排出。临床表现主要为智力发育障碍,晶状体脱位,骨骼异常,心血管疾病。1962年首先由Field所描述、国外报告甚多,国内1981年裴琼华报告3例,现将我院1例报告如下。 Homocysteineuria is a congenital amino acid metabolism disorders, autosomal recessive genetic disease. The main cause is cystathion synthesis disorder, resulting in abnormal metabolism of methionine, homocystine blood accumulation, excreted from the urine. The main clinical manifestations of mental retardation, dislocation of the lens, skeletal disorders, cardiovascular disease. First described by Field in 1962, many foreign reports, Pei Qionghua reported three cases in 1981, now a hospital in our report as follows.