一磷酸腺苷脱氨酶缺乏红细胞型
基因病名称(英)
Adenosine monophosphate deaminase deficiency erythrocyte type
别名(英)
AMP deaminase deficiency erythrocyte type,Erythrocyte AMP deaminase deficiency
别名
AMP脱氨酶缺乏症红细胞型,红细胞AMP脱氨酶缺乏症
统计
reviewed:1; annotated:0
交叉引用
612874,C2752073,D008659
描述(英)
A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.
描述
由于 AMP 脱氨酶的红细胞同种型缺乏活性而导致的代谢紊乱。它是一种临床上无症状的疾病，其特征是受影响细胞中 ATP 的稳态水平增加了 50%。红细胞 AMP 脱氨酶完全缺乏的个体是健康的并且没有血液系统疾病。