3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症
基因病名称(英)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
基因病名称
3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症
别名(英)
HL deficiency,HMGCL deficiency,HMG-CoA lyase deficiency,Hydroxymethylglutaricaciduria,Hydroxymethylglutaric aciduria
别名
HL缺乏症、HMGCL缺乏症、HMG-CoA裂解酶缺乏症、羟甲基戊二酸尿症、羟甲基戊二酸尿症
统计
reviewed:1; annotated:0
交叉引用
246450,C0268601,D000592
描述(英)
An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.
描述
一种影响生酮和 L-亮氨酸分解代谢的常染色体隐性遗传病。该疾病通常出现在禁食期后的第一年，其临床急性症状包括呕吐、癫痫发作、代谢性酸中毒、低酮性低血糖和嗜睡。这些症状有时会发展为昏迷，在某些情况下会导致致命的后果。