Fatty Acid Beta-Oxidation Disorders: A Brief Review

被引：65
|
作者：
Vishwanath, Vijay A. [1 ]
机构：
[1] Albany Med Ctr, Dept Neurol, Div Pediat Neurol, 43 New Scotland Ave,Mail Code 70, Albany, NY 12208 USA
来源：
ANNALS OF NEUROSCIENCES | 2016年 / 23卷 / 01期
关键词：
Mitochondrial fatty acid beta-oxidation disorders; Fatty acid beta-oxidation disorder; MCAD deficiency;
D O I：
10.1159/000443556
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Background: Mitochondrial fatty acid beta-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial beta-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. Summary: The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of information describing the scope of these disorders. Key Messages: This article presents a typical case of medium chain acyl-CoA dehydrogenase deficiency and summarizes the pathophysiology, clinical presentation, diagnosis and treatment of mitochondrial FAODs. (C) 2016 S. Karger AG, Basel
引用
收藏
页码：51 / 55
页数：5
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