Fatty acid oxidation disorders

被引:326
作者
Rinaldo, P [1 ]
Matern, D
机构
[1] Mayo Clin & Mayo Fdn, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN 55905 USA
[2] Univ Texas, SW Med Ctr, Dept Pathol, Dallas, TX 75390 USA
[3] Univ Texas, SW Med Ctr, Dept Pediat, Dallas, TX 75390 USA
关键词
carnitine; inborn errors; ketogenesis; membrane transport; tissue specificity;
D O I
10.1146/annurev.physiol.64.082201.154705
中图分类号
Q4 [生理学];
学科分类号
071003 ;
摘要
Genetic disorders of mitochondrial fatty acid beta-oxidation have been recognized within the last 20 years as important causes of morbidity and mortality, highlighting the physiological significance of fatty acids as an energy source. Although the mammalian mitochondrial fatty acid-oxidizing system was recognized at the beginning of the last century, our understanding of its exact nature remains incomplete, and new components are being identified frequently. Originally described as a four-step enzymatic process located exclusively in the mitochondrial matrix, we now recognize that long-chain-specific enzymes are bound to the inner mitochondrial membrane, and some enzymes are expressed in a tissue-specific manner. Much of our new knowledge of fatty acid metabolism has come from the study of patients who were diagnosed with single-gene autosomal recessive defects, a situation that seems to be further evolving with the emergence of phenotypes determined by combinations of multiple genetic and environmental factors. This review addresses the normal process of mitochondrial fatty acid beta-oxidation and discusses the clinical, metabolic, and molecular aspects of more than 20 known inherited diseases of this pathway that have been described to date.
引用
收藏
页码:477 / 502
页数:26
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