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成人发作性重复横纹肌溶解症伴极长链酰基辅酶 A 脱氢酶缺乏症，由复合杂合 ACADVL 突变引起。

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

机构信息

Department of Molecular and Cellular Physiology, Graduate School of Medicine, Kyoto University, Japan.

Department of Neurology, Graduate School of Medicine, Kyoto University Hospital, Japan.

出版信息

Intern Med. 2020 Nov 1;59(21):2729-2732. doi: 10.2169/internalmedicine.4604-20. Epub 2020 Jul 14.

DOI:10.2169/internalmedicine.4604-20
PMID:32669490
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7691026/
Abstract

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).

摘要

极长链酰基辅酶 A 脱氢酶（VLCAD）缺乏症是一种脂肪酸β氧化的遗传疾病，由编码 VLCAD 的 ACADVL 缺陷引起。VLCAD 缺乏症的临床表现具有异质性，有时可能会出现诊断延迟或误诊。我们在此描述了一例具有 ACADVL 基因突变的杂合子的成年发病的肌肉型 VLCAD 缺乏症的疑难病例，包括 c.790A>G（p.K264E）和 c.1246G>A（p.A416T）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acae/7691026/f8e96c81f98e/1349-7235-59-2729-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acae/7691026/f8e96c81f98e/1349-7235-59-2729-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acae/7691026/f8e96c81f98e/1349-7235-59-2729-g001.jpg

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