Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
- 1 March 1987
- journal article
- research article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 79 (3) , 382-385
- https://doi.org/10.1542/peds.79.3.382
Abstract
A 20-month-old girl with a family history of two siblings who died of an encephalopathy diagnosed as Reye syndrome presented to an emergency room in hypoglycemic coma and was found to have medium-chain acyl-coenzyme A dehydrogenase deficiency. The salient clinical and biochemical features of this newly described inborn error of fatty acid metabolism are described and contrasted to those of classical Reye syndrome. Important clues that should lead the clinician to suspect this disorder, methods of diagnosis, and appropriate acute and long-term therapy are also discussed.This publication has 8 references indexed in Scilit:
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