Clinical and biochemical features of fatty acid oxidation disorders.
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.
Rinaldo
P
P
Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN 55905, USA.
Raymond
K
K
al-Odaib
A
A
Bennett
M J
MJ
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D002352:Carrier Proteins / Q000378:metabolism*; D050612:Fatty Acid Transport Proteins; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase / Q000172:deficiency*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism*; D026901:Membrane Transport Proteins; D008967:Molecular Biology; D010084:Oxidation-Reduction; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics
D002352:Carrier Proteins; D050612:Fatty Acid Transport Proteins; D005227:Fatty Acids; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D015094:3-Hydroxyacyl CoA Dehydrogenases; D000102:Acetyl-CoA C-Acyltransferase; D006904:Hydroxymethylglutaryl-CoA Synthase