Mitochondrial fatty acid oxidation disorders

Fatty Acids (FAs) consists of several chain lengths (short, medium and long chain), which all need to be converted to CoA-bound esters to cross the inner mitochondrial membrane. The long-chain lengths however also need additional carnitine esterification. Several diseases are linked to the proteins in this pathway, which can be categorized into four groups: 1. entry of long-chain FAs into mitochondria disorders; 2. intra-mitochondrial beta-oxidation membrane-bound proteins defects involving long-chain FAs; 3. intra-mitochondrial beta-oxidation matrix proteins defects involving short and medium-chain FAs; 4. impaired electron transfer to Oxidative phosphorylation (OXPHOS) system. This pathway has been inspired by Chapter 17 of the book of Blau (ISBN 3642403360 (978-3642403361)), edition 4 and build on top of the original [https://www.wikipathways.org/instance/WP368_r117795 'Mitochondrial long chain fatty acid beta-oxidation pathway']. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP368 CPTAC Assay Portal]

脂肪酸（FAs）由多种链长（短链、中链和长链）组成，所有这些链长均需转化为辅酶A（CoA）结合的酯类以跨越线粒体内膜。然而，长链长度还需经过额外的肉碱酯化过程。与该通路中的蛋白质相关的多种疾病可被划分为四类：1. 长链脂肪酸进入线粒体的疾病；2. 涉及长链脂肪酸的线粒体内β-氧化膜结合蛋白缺陷；3. 涉及短链和中链脂肪酸的线粒体内β-氧化基质蛋白缺陷；4. 电子传递至氧化磷酸化（OXPHOS）系统的受损。此通路深受Blau所著之书的第17章启发，该书版本为第4版，并在原始的[https://www.wikipathways.org/instance/WP368_r117795 '线粒体长链脂肪酸β-氧化通路']基础上构建。该通路上的蛋白质具有可通过[https://assays.cancer.gov/available_assays?wp_id=WP368 CPTAC检测门户]获得的靶向检测方法。