Hanyang Med Rev.  2005 Aug;25(3):79-91.

Fatty acid oxidation disorders

  • 1College of Pharmacy, Duksung Women's University Biomedical & Pharmaceutical Analysis Laboratory, Korea. hyeran11@duksung.ac.kr


Inborn errors of fatty acid mitochondrial oxidation (FAOD) have drawn considerable attention in recent years because of rapid pace of discovery of new defects and an ever-increasing spectrum of clinical phenotypes. This review describes a clinical and biochemical phenotypes, diagnosis and treatment of FAOD. Some of FAOD can not be detected by conventional biochemical investigations, even when a patient is symptomatic with fasting intolerance or functional failure of fatty acid dependent tissue (s). Diagnosis must ultimately be based on direct assay of the involved enzyme, however, preliminary indicators may come from determination of carnitine and intermediate metabolites in plasma, profiling of urine organic acid, and radioisotopic screening assays with lymphocytes or cultured fibroblasts. We are faced with the following major challenges: whether to include FAOD in newborn screening programs, the investigation of the rules played by individual disorders in maternal complication during pregnancy, sudden and unexpected death in early life, and pediatric acute/fulminant liver failure.


Fatty acid beta-oxidation disorders; Carnitine cycle; Hypoketotic Hypoglycemia; Acylcarnitine; Ketone body; Fasting intolerance
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