精氨琥珀酸尿症
基因病名称(英)
Argininosuccinic aciduria
别名(英)
Argininosuccinase deficiency,Argininosuccinic acid lyase deficiency,ASAuria,ASL deficiency
别名
精氨琥珀酸酶缺乏症、精氨琥珀酸裂合酶缺乏症、ASA尿症、ASL缺乏症
统计
reviewed:1; annotated:0
交叉引用
207900,C0268547,D000592
描述(英)
An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.
描述
尿素循环的常染色体隐性遗传病。本病的特点是精神和体力发育迟缓，肝脏肿大，皮损，头发干脆，镜下可见结节性脱毛并发出红色荧光，抽搐，偶发性神志不清。