腺苷酸琥珀酶缺乏症
基因病名称(英)
Adenylosuccinase deficiency
别名(英)
Adenylosuccinate lyase deficiency,ADSL deficiency
统计
reviewed:1; annotated:0
交叉引用
103050,C0268126,D011686
描述(英)
An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA- riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.
描述
一种常染色体隐性遗传疾病，其特征在于琥珀酰氨基咪唑-甲酰胺核苷（SAICA-核苷）和琥珀酰腺苷（S-Ado）在体液中蓄积。大多数儿童表现出明显的精神运动迟缓，通常伴有癫痫或自闭症特征，或两者兼而有之，尽管有些患者可能不太严重。偶尔也会出现生长迟缓和肌肉萎缩。