1 From the Departments of Gastroenterology, Endocrinology, and Biochemical Development and Molecular Diseases, The Children’s Hospital of Philadelphia; and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia
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.
Key Words: Reye syndrome dicarboxylic aciduria fatty acid metabolism inborn error of metabolism nonketotic hypoglycemia
Submitted on August 27, 1985
Accepted on June 11, 1986