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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
