高胱氨酸尿症(Homocystinuria)为常染色体隐性遗传。是先天性蛋氨酸代谢障碍。因胱硫醚(Cystathionine)合成酶的缺失,导致高胱氨酸在组织和血中的蓄积,尿中排出高胱氨酸增加。临床上具有晶状体脱位,骨骼系统异常及心血管病变的三联征。与Marfan氏综合症很相似。因此在1962年以前本病常被混淆为Marfan氏综合症。 Homocystinuria is autosomal recessive. Congenital methionine metabolism disorders. The absence of Cystathionine synthase results in the accumulation of homocystine in tissues and blood, and an increase in homocysteine ​​excretion in the urine. Clinically with lens dislocation, skeletal system abnormalities and cardiovascular disease triple sign. Very similar to Marfan’s syndrome. Therefore, before 1962 the disease is often confused with Marfan’s syndrome.