3-α-羟酰基-CoA脱氢酶缺乏症
基因病名称(英)
3-alpha-hydroxyacyl-CoA dehydrogenase deficiency
别名(英)
HAD deficiency,Hydroxyacyl-coenzyme A dehydrogenase deficiency,SCHAD deficiency
别名
HAD缺乏症、羟酰基辅酶A脱氢酶缺乏症、SCHAD缺乏症
统计
reviewed:1; annotated:0
交叉引用
231530,C1291230,D008659
描述(英)
An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.
描述
一种常染色体隐性遗传代谢疾病，具有各种临床表现，包括低血糖症、肝脑病、肌病或心肌病，在某些情况下还可能导致猝死。