Disorders of Fatty Acid Oxidation

  • C. A. Stanley


A dozen genetic defects in the fatty acid-oxidation pathway are currently known. Nearly all of these defects present in early infancy as acute, life-threatening episodes of hypoketotic, hypoglycemic coma induced by fasting [1–3]. In some of the disorders, there may also be chronic skeletal-muscle weakness or acute exercise-induced rhabdomyolysis and acute or chronic cardiomyopathy. Recognition of the fatty acid-oxidation disorders is often difficult, because patients can appear well until they undergo prolonged fasting.


Fatty Acid Oxidation Dehydrogenase Deficiency Reye Syndrome Hypoglycemic Coma MCAD Deficiency 
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© Springer-Verlag Berlin Heidelberg 2000

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  • C. A. Stanley

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