The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

被引：598

作者：

Houten, Sander M. ^{[1
,2
]}

Violante, Sara ^{[1
,2
]}

Ventura, Fatima V. ^{[3
,4
]}

Wanders, Ronald J. A. ^{[5
,6
]}

机构：

[1] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA

[3] IMed Univ Lisbon, Res Inst Med & Pharmaceut Sci, Metab & Genet Grp, P-1649003 Lisbon, Portugal

[4] Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal

[5] Univ Amsterdam, Dept Clin Chem, Lab Genet Metab Dis, NL-1100 DE Amsterdam, Netherlands

[6] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

来源：

ANNUAL REVIEW OF PHYSIOLOGY, VOL 78 | 2016年 / 78卷

关键词：

inborn errors of metabolism; hypoglycemia; heart; muscle; mouse models; ACYL-COA-DEHYDROGENASE; COENZYME-A DEHYDROGENASE; CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE; RAT-LIVER MITOCHONDRIA; CARNITINE PALMITOYLTRANSFERASE 2; MYOCARDIAL LIPID-ACCUMULATION; TRIFUNCTIONAL PROTEIN; RECEPTOR-ALPHA; SKELETAL-MUSCLE; FOLLOW-UP;

D O I：

10.1146/annurev-physiol-021115-105045

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Mitochondrial fatty acid beta-oxidation (FAO) is the major pathway for the degradation of fatty acids and is essential for maintaining energy homeostasis in the human body. Fatty acids are a crucial energy source in the postabsorptive and fasted states when glucose supply is limiting. But even when glucose is abundantly available, FAO is a main energy source for the heart, skeletal muscle, and kidney. A series of enzymes, transporters, and other facilitating proteins are involved in FAO. Recessively inherited defects are known for most of the genes encoding these proteins. The clinical presentation of these disorders may include hypoketotic hypoglycemia, (cardio) myopathy, arrhythmia, and rhabdomyolysis and illustrates the importance of FAO during fasting and in hepatic and (cardio) muscular function. In this review, we present the current state of knowledge on the biochemistry and physiological functions of FAO and discuss the pathophysiological processes associated with FAO disorders.

引用

页码：23 / 44

页数：22

共 145 条

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