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Disorders of Fatty Acid Oxidation

  • C. A. Stanley

Abstract

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.

Keywords

Fatty Acid Oxidation Dehydrogenase Deficiency Reye Syndrome Hypoglycemic Coma MCAD Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Springer-Verlag Berlin Heidelberg 2000

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  • C. A. Stanley

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