精氨酸血症
别名(英)
ARG1 deficiency,Arginase-1 deficiency,Arginase deficiency,Hyperargininemia
别名
ARG1缺乏症、精氨酸酶1缺乏症、精氨酸酶缺乏症、高精氨酸血症
统计
reviewed:1; annotated:0
交叉引用
207800,C0268548,D020162
描述(英)
A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.
描述
一种罕见的尿素循环常染色体隐性遗传病。精氨酸在血液和脑脊液中升高，并出现周期性高氨血症。临床表现包括发育迟缓、癫痫发作、智力低下、张力减退、共济失调和进行性痉挛性四肢瘫痪。