同型胱氨酸尿症是甲硫氨酸代谢过程中,酶缺陷所造成的代谢紊乱病。Caron 和Dent 1962年在北爱尔兰地区,对2,081例智力低下的儿童的尿液进行氨基酸分析,发现其中7人尿液中有异常代谢产物——同型胱氨酸。从而首次确立了尚未描述过的氨基酸代谢紊乱病——同型胱氨酸尿症。同型胱氨酸尿症患者具有明显的临床症状,患儿 Homocystinuria is a metabolic disorder caused by enzymatic defects during methionine metabolism. Carnitine and Dent Amino Acid Analysis of Urine from 2,081 Mentally Retarded Children in Northern Ireland in 1962 found that 7 of them had an abnormal metabolite, homocysteine, in their urine. Thus for the first time has not yet been described in the amino acid metabolism disorders - homocystinuria. Patients with homocystinuria have significant clinical symptoms in children