同型胱氨酸尿症是60年代发现的一种先天性代谢缺陷性遗传病,国内已开始有病例报道。本病的遗传方式为常染色体隐性,大多数在青少年时期起病,病变常累及双眼,男女均可罹病。由于丙氨酸丁氨酸硫醚合成酶的缺乏,阻断了同型半胱氨酸和丙氨酸丁氨酸硫醚之间的代谢,使同型半胱氨酸在血液和组织内积聚,产生了同型胱氨酸尿。 Homocystinuria is a congenital metabolic defects found in the 60s genetic disease, the country has begun to have case reports. The inheritance of the disease autosomal recessive, most of the onset in adolescence, lesions often affect both eyes, both men and women can be sick. Due to the lack of alanine bisulfate synthase, the metabolism between homocysteine ​​and alanine bisulfate is blocked, homocysteine ​​accumulates in the blood and tissues, producing The same type of cystine urine.