HDS10 线粒体病
基因病名称(英)
HDS10 mitochondrial disease
别名(英)
17-beta-hydroxysteroid dehydrogenase X deficiency,2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency,3-hydroxyacyl-CoA dehydrogenase II deficiency,3-hydroxyacyl-CoA dehydrogenase type 2 deficiency,3-hydroxyacyl-CoA dehydrogenase type-2 deficiency,3-hydroxyacyl-CoA dehydrogenase type II deficiency,CAMR,HSD17B10 deficiency,Mental retardation, X-linked, syndromic, 10,Mental retardation with chorioathetosis and abnormal behavior,MHBD deficiency,MRXS10
别名
17-β-羟基类固醇脱氢酶 X 缺乏症、2-甲基-3-羟基丁酰-CoA 脱氢酶缺乏症、3-羟基酰基-CoA 脱氢酶 II 缺乏症、3-羟基酰基-CoA 脱氢酶 2 型缺乏症、3-羟基酰基-CoA 脱氢酶 2 型缺乏症,3-羟酰基辅酶A脱氢酶II型缺乏症,CAMR,HSD17B10缺乏症,智力低下,X连锁,综合征,10,智力低下伴脉络膜手足徐动症和异常行为,MHBD缺乏症,MRXS10
统计
reviewed:1; annotated:0
交叉引用
300438,C1845517,D020739
描述(英)
An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis.
描述
一种严重程度不一的 X 连锁多系统疾病。发病年龄范围从新生儿期到儿童早期。特征包括进行性神经退行性变、精神运动迟缓、精神和运动技能丧失、癫痫发作、心肌病以及视力和听力障碍。部分患者出现乳酸酸中毒和代谢性酸中毒。