由于 ATIC 缺乏导致的 AICA-核糖尿
基因病名称(英)
AICA-ribosuria due to ATIC deficiency
基因病名称
由于 ATIC 缺乏导致的 AICA-核糖尿
关键字(英)
Mental retardation
别名(英)
AICA-ribosiduria due to ATIC deficiency,AICAR transformylase/IMP cyclohydrolase deficiency,ATIC deficiency
别名
AICA-核糖苷尿由于 ATIC 缺乏，AICAR 转化酶/IMP 环水解酶缺乏，ATIC 缺乏
统计
reviewed:1; annotated:0
交叉引用
608688,C1837530,D011686
描述(英)
A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. Clinical features include profound mental retardation, epilepsy, dysmorphic features and congenital blindness. AICAR inheritance is autosomal recessive.
描述
嘌呤生物合成的神经系统破坏性先天性错误。患者在尿液中排出大量 AICA-核苷，并在红细胞和成纤维细胞中积累 AICA-核苷及其衍生物。临床特征包括严重的智力低下、癫痫、畸形特征和先天性失明。AICAR 遗传是常染色体隐性遗传。