3-甲基戊二酸尿症 5
基因病名称(英)
3-methylglutaconic aciduria 5
别名(英)
3-alpha-methylglutaconic aciduria type 5,DCMA,Dilated cardiomyopathy with ataxia,MGA5,MGA type V
别名
3-α-甲基戊二酸尿症 5 型，DCMA，扩张型心肌病伴共济失调，MGA5，MGA V 型
统计
reviewed:1; annotated:0
交叉引用
610198,C1857776,D002311
描述(英)
An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.
描述
一种常染色体隐性遗传疾病，其特征是早发性扩张型心肌病、生长障碍、小脑共济失调导致明显的运动迟缓、睾丸发育不全、生长障碍和尿有机酸（尤其是 3-甲基戊二酸和 3-甲基戊二酸）显着增加。