天冬氨酰氨基葡萄糖尿
基因病名称(英)
Aspartylglucosaminuria
别名(英)
AGA deficiency,Aspartylglucosaminidase deficiency,Aspartylglycosaminuria,Glycosylasparaginase deficiency
别名
AGA缺乏症、天冬氨酰氨基葡萄糖酶缺乏症、天冬氨酰氨基葡萄糖尿症、糖基天冬酰胺酶缺乏症
统计
reviewed:1; annotated:0
交叉引用
208400,C0268225,C2931840,CN068400,D054880
描述(英)
An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.
描述
一种先天性溶酶体贮积症，导致糖天冬酰胺在身体组织中过量积累，并在尿液中排泄增加。临床特征包括从两岁开始出现的轻度至重度智力迟钝、面部特征粗糙和轻度结缔组织异常。