Clinical and biochemical features of fatty acid oxidation disorders

Abstract

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.