Rinaldo P, Raymond K, al-Odaib A, Bennett M J
Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN 55905, USA.
Curr Opin Pediatr. 1998 Dec;10(6):615-21. doi: 10.1097/00008480-199810060-00014.
Inborn errors of fatty acid oxidation (FAO) represent a group of metabolic disorders that has brought forward many interesting developments, as highlighted by the rapid pace of discovery of new defects and by the recognition of an ever-increasing spectrum of clinical phenotypes. This review includes a clinical and biochemical summary of the FAO disorders known to date, a synopsis of four recently discovered defects (short-chain 3-hydroxy acyl-CoA [coenzyme A] dehydrogenase deficiency, medium-chain 3-ketoacyl-CoA thiolase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, and long-chain fatty acid transport deficiency) and of two susceptibility variations in the short-chain acyl-CoA dehydrogenase gene, and guidelines for the biochemical work-up of candidate patients.
脂肪酸氧化先天性缺陷（FAO）是一类代谢紊乱疾病，带来了许多有趣的进展，新缺陷的快速发现以及对临床表型范围不断扩大的认识都突出了这一点。本综述包括迄今为止已知的FAO疾病的临床和生化总结、四种最近发现的缺陷（短链3-羟基酰基辅酶A脱氢酶缺乏症、中链3-酮酰基辅酶A硫解酶缺乏症、3-羟基-3-甲基戊二酰辅酶A合酶缺乏症和长链脂肪酸转运缺乏症）以及短链酰基辅酶A脱氢酶基因中的两种易感性变异的概述，还有候选患者生化检查的指南。
