Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of (ACADVLD)

极长链酰基辅酶A脱氢酶缺乏症(来自ICD-11)

别称:

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

Acadvld

Vlcadd

Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency of

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Acadl Deficiency

Vlcad-C

Vlcad-H

Acadvl

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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

酰基辅酶A脱氢酶，长链，缺陷，也称为vlcad缺陷，与dlg4相关突触病和常染色体显性62相关，症状包括嗜睡和呕吐。与酰基辅酶A脱氢酶，长链，缺陷相关的基因是ACADVL（酰基辅酶A脱氢酶长链），其相关通路/超级通路包括代谢和脂肪酸代谢。在该疾病的背景下，已提到的药物包括甘油和贝扎菲布。附属组织包括骨骼肌和肝脏，相关表型为循环游离脂肪酸水平升高和低体温。

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