title: The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders.
abstract: Mitochondrial fatty acid β-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.
authors.affiliation: Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029; email: sander.houten@mssm.edu , sara.violante@mssm.edu.
authors.forename: Sander M
authors.initials: SM
authors.lastname: Houten
authors.affiliation: Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029; email: sander.houten@mssm.edu , sara.violante@mssm.edu.
authors.forename: Sara
authors.initials: S
authors.lastname: Violante
authors.affiliation: Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences, iMed.ULisboa, 1649-003 Lisboa, Portugal; email: fatima.ventura@ff.ulisboa.pt.|Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, 1649-003 Lisboa, Portugal.
authors.forename: Fatima V
authors.initials: FV
authors.lastname: Ventura
authors.affiliation: Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, University of Amsterdam, 1100 DE Amsterdam, The Netherlands; email: r.j.wanders@amc.uva.nl.|Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000818:Animals; D005227:Fatty Acids / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism; D006706:Homeostasis / Q000235:genetics / Q000502:physiology; D006801:Humans; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D010084:Oxidation-Reduction
chemical_list: D005227:Fatty Acids; D005947:Glucose
keywords: heart; hypoglycemia; inborn errors of metabolism; mouse models; muscle