长链脂肪酸氧化障碍的诊断和临床治疗综述。

TouchREVIEWS in endocrinology Pub Date : 2021-11-01 Epub Date: 2021-09-10 DOI:10.17925/EE.2021.17.2.108
Joshua J Baker, Barbara K Burton
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引用次数: 3

摘要

长链脂肪酸氧化障碍(LC-FAODs)是一种常染色体隐性遗传代谢疾病,是由于机体线粒体氧化能力的破坏而发生的。扩大新生儿筛查扩大了对这些疾病的表型理解,也提高了我们对疾病发病率的认识。这些疾病的管理重点是避免禁食、改变饮食和补充绕过代谢障碍的能量来源。最近美国食品和药物管理局批准了三庚烷酸,改善了受影响个体的预后。对这些疾病的饮食调整和新的药物治疗的新研究仍在继续。在本文中,我们回顾了主要的LC-FAODs及其临床表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review.

Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's ability to perform mitochondrial beta oxidation. Expanded newborn screening is widening phenotypic understanding of these disorders, as well improving our knowledge of disease incidence. Management of these disorders is focused on avoidance of fasting, dietary changes and supplementation with energy sources that bypass the metabolic block. Recent US Food and Drug Administration approval of triheptanoin has improved the outcome for affected individuals. New research into dietary modifications and novel pharmacologic therapies continues for these disorders. In this article, we review the major LC-FAODs and their clinical presentation.

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