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Medium Chain Acyl-coA Dehydrogenase Deficiency (MCADD) Primary Defect Defect in production of MCAD enzyme which functions in metabolizing fatty acids. Screening Test Tandem mass spectrometry to measure octanoylcarnitine, a product of fatty acid metabolism that accumulates if the MCAD enzyme is deficient. Etiology & Prevalence Genetic (autosomal recessive) About one in every 20,000 babies in the United States is born with MCAD deficiency. If Untreated Variable expression, however, fasting or infection can trigger acute episodes of hypoglycemia leading to rapid crisis or death (30% mortality following first episode). Up to 5% of deaths attributed to Sudden Infant Death Syndrome may in fact be caused by undiagnosed MCAD deficiency. Therapy Avoidance of fasting with special care during illness, reduction of dietary fat. With Treatment Crisis episodes avoided, no apparent consequences. |
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Washington
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05/21/2009 06:37 PM
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