β-巯基乳酸半胱氨酸二硫尿症

定义 英文原文（暂无中文）

An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.

别名

3-巯基丙酮酸硫酸转移酶缺乏症

基本事实

发病年龄

无数据

患病率

<1 / 1 000 000

临床表型 24

外部标识与链接