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An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency
D Marsden1, K Sege-Petersen, W L Nyhan
1Department of Pediatrics, University of California-San Diego, La Jolla.
Objective:
To report an atypical presentation of medium-chain acyl Coenzyme A dehydrogenase deficiency in a 13-year-old girl with hyperammonemic encephalopathy and orotic aciduria meeting the accepted criteria for diagnosis of a female heterozygous for ornithine transcarbamylase deficiency.
Design:
Case report and definitive biochemical testing.
Setting:
Children's hospital and university laboratory.
Participant:
One teenager.
Interventions:
Diagnosis and treatment with carnitine.
Measurements/Main Results:
Assay ornithine transcarbamylase deficiency had normal results. The diagnosis was confirmed by DNA analysis, which revealed homozygosity for prevalent mutation (the adenine to guanine transition at position 985).
Conclusions:
Patients with a clinical diagnosis of Reye's syndrome have, in general, an inborn error of metabolism. Medium-chain acyl Coenzyme A dehydrogenase deficiency and other disorders of fatty acid oxidation may present long after infancy. They may mimic the presentation of defects in the urea cycle.