Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of (ACADMD)

中链酰基辅酶A脱氢酶缺乏症(来自ICD-11)

别称:

Mcad Deficiency

Medium Chain Acyl-Coa Dehydrogenase Deficiency

Acadm Deficiency

Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

Mcadh Deficiency

Mcadd

Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Acadmd

Acyl-Coa Dehydrogenase Medium-Chain Deficiency

Medium Chain Acyl Coa Dehydrogenase Deficiency

Medium Chain Acyl Dehydrogenase Deficiency

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

中链酰基辅酶A脱氢酶缺乏症，也称为mcad缺乏症，与酰基辅酶A脱氢酶缺乏症和脂质性先天性肾上腺增生有关，症状包括嗜睡、癫痫发作和呕吐。与中链酰基辅酶A脱氢酶缺乏症相关的基因是ACADM（中链酰基辅酶A脱氢酶），其相关通路/超级通路包括代谢和脂肪酸代谢。苯基丁酸和甘油已在这种疾病的背景下被提及。附属组织包括肝脏和大脑，相关表型为肌张力低下和肝大。

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