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

Abstract
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 large-droplet 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.
AuthorsR Santer, E Schmidt-Sommerfeld, Y K Leung, J E Fischer, E Lebenthal
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 150 Issue 2 Pg. 111-4 (Dec 1990) ISSN: 0340-6199 [Print] Germany
PMID2279505 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase
Topics
  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases (deficiency)
  • Diagnosis, Differential
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors (diagnosis, pathology)
  • Male
  • Mitochondria, Liver (ultrastructure)
  • Reye Syndrome (diagnosis, pathology)

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