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.
|
Authors | R Santer, E Schmidt-Sommerfeld, Y K Leung, J E Fischer, E Lebenthal |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 150
Issue 2
Pg. 111-4
(Dec 1990)
ISSN: 0340-6199 [Print] Germany |
PMID | 2279505
(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)
|