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medium chain acyl-coenzyme A dehydrogenase deficiency |
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medium chain acyl-coenzyme A dehydrogenase deficiency An AR disease of fatty acid oxidation seen in the first 2 yrs of life as either sudden unexplained death at home or, if in the hospital, as Reye syndrome, due to an inability to break down fat to ketones and energy Clinical Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death Lab Hypoketotic hypoglycemia, medium-chain dicarboxylic aciduria Diagnosis Mutation analysis of paraffin-embedded blocks of postmortem tissue How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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