Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
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DOI：
10.3390/cells7060046
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发表时间：
2018-05-23
期刊：
影响因子：
6
通讯作者：
McKenzie M
中科院分区：
文献类型：
--
作者：
Sharpe AJ;McKenzie M
线粒体脂肪酸β-氧化（FAO）是人体脂肪酸代谢的主要途径，在肝脏、心脏和骨骼肌能量稳态中发挥关键作用。在葡萄糖供应有限的禁食期间，粮农组织尤其重要，为许多器官和组织提供能量，包括心脏，肝脏和大脑。FAO中的缺陷可在幼儿期引起危及生命的代谢紊乱，表现为肝功能障碍、低血糖、扩张型肥厚型心肌病和Reye样综合征。另外，FAO缺陷也可能导致“较温和”的成人发病疾病，如运动诱发的肌病和横纹肌溶解症。短链烯酰辅酶A水合酶（ECHS 1）是FAO中参与脂肪酰辅酶A酯代谢的关键酶。ECHS 1缺陷（ECHS 1D）也会导致人类疾病;然而，临床表现与大多数其他FAO疾病不同。ECHS 1D患者通常表现为Leigh综合征，这是一种亚急性坏死性脑脊髓病的致死形式，传统上与氧化磷酸化（OXPHOS）缺陷相关。在这篇文章中，我们回顾了迄今为止描述的ESHS 1D患者的临床、生化和遗传特征，并讨论了与ECHS 1D相关的继发性OXPHOS缺陷的意义及其对整体疾病发病机制的贡献。
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome. Alternatively, FAO defects can also cause ‘milder’ adult-onset disease with exercise-induced myopathy and rhabdomyolysis. Short-chain enoyl-CoA hydratase (ECHS1) is a key FAO enzyme involved in the metabolism of fatty acyl-CoA esters. ECHS1 deficiency (ECHS1D) also causes human disease; however, the clinical manifestation is unlike most other FAO disorders. ECHS1D patients commonly present with Leigh syndrome, a lethal form of subacute necrotizing encephalomyelopathy traditionally associated with defects in oxidative phosphorylation (OXPHOS). In this article, we review the clinical, biochemical and genetic features of the ESHS1D patients described to date, and discuss the significance of the secondary OXPHOS defects associated with ECHS1D and their contribution to overall disease pathogenesis.
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影响因子：
5.3
作者：
Haack TB;Jackson CB;Murayama K;Kremer LS;Schaller A;Kotzaeridou U;de Vries MC;Schottmann G;Santra S;Büchner B;Wieland T;Graf E;Freisinger P;Eggimann S;Ohtake A;Okazaki Y;Kohda M;Kishita Y;Tokuzawa Y;Sauer S;Memari Y;Kolb-Kokocinski A;Durbin R;Hasselmann O;Cremer K;Albrecht B;Wieczorek D;Engels H;Hahn D;Zink AM;Alston CL;Taylor RW;Rodenburg RJ;Trollmann R;Sperl W;Strom TM;Hoffmann GF;Mayr JA;Meitinger T;Bolognini R;Schuelke M;Nuoffer JM;Kölker S;Prokisch H;Klopstock T
通讯作者：
Klopstock T
影响因子：
56.9
作者：
DIMAURO, S;DIMAURO, PMM
通讯作者：
DIMAURO, PMM
DOI：
10.1016/0006-291x(92)90501-b
发表时间：
1992-03-16
影响因子：
3.1
作者：
CARPENTER, K;POLLITT, RJ;MIDDLETON, B
通讯作者：
MIDDLETON, B
影响因子：
3.6
作者：
Das, AM;Fingerhut, R;Ullrich, K
通讯作者：
Ullrich, K
影响因子：
4.2
作者：
Houten, Sander Michel;Wanders, Ronald J. A.
通讯作者：
Wanders, Ronald J. A.