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Medium-chain acyl CoA dehydrogenase deficiency: Electron microscopic differentiation from Reye syndrome

  • Metabolic Diseases
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Inborn errors involving the oxidative metabolism of fatty acids may present clinically with a Reye syndrome-like picture. This case report of a patient with medium-chain acyl CoA dehydrogenase (MCAD) deficiency illustrates that electron microscopy may help to differentiate this disorder from Reye syndrome even if a liver biopsy is performed in a patient who recovered from an acute metabolic decompensation. Together with this case, a review of the few reports in the literature of pathological findings in MCAD deficiency is given. Changes uncharacteristic for Reye syndrome are a largedroplet steatosis and the presence of distinctive mitochondrial abnormalities on electron microscopy. The detection of an electron dense mitochondrial matrix and a widened space of inner mitochondrial membranes rules out Reye syndrome and is suggestive of a disorder of mitochondrial fatty acid oxidation.

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medium-chain acyl CoA dehydrogenase


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Santer, R., Schmidt-Sommerfeld, E., Leung, Y.K. et al. Medium-chain acyl CoA dehydrogenase deficiency: Electron microscopic differentiation from Reye syndrome. Eur J Pediatr 150, 111–114 (1990).

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