Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
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Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome. / Santer, René; Schmidt-Sommerfeld, E; Leung, Y K; Fischer, J E; Lebenthal, E.
In: EUR J PEDIATR, Vol. 150, No. 2, 2, 1990, p. 111-114.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
AU - Santer, René
AU - Schmidt-Sommerfeld, E
AU - Leung, Y K
AU - Fischer, J E
AU - Lebenthal, E
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 150
SP - 111
EP - 114
JO - EUR J PEDIATR
JF - EUR J PEDIATR
SN - 0340-6199
IS - 2
M1 - 2
ER -
