Disorders of Fatty Acid Oxidation
The disorders of fatty acid oxidation comprise ten defects in the steps of mitochondrial oxidation of long-chain fatty acids (Table 1). These disorders are rather recent additions to the list of inherited metabolic diseases. The first was reported in 1973  and most have only been described since 1980. Additional defects in the other nine enzyme steps in this pathway are likely to be defined in the near future. Most of the disorders that have been identified present with recurrent episodes of fasting coma and hypoglycemia. In a few, the clinical manifestations include chronic muscle weakness and cardiomyopathy. Although these disorders of fatty acid oxidation are associated with a high risk of mortality during acute episodes, once diagnosed, simple avoidance of prolonged fasts is usually sufficient treatment and the long-term prognosis is most often excellent.
KeywordsKetone Cardiomyopathy NADH Leucine Triglyceride
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3-OH ACD Deficiency
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Primary Carnitine Deficiency
HMG-CoA Lyase Deficiency