An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency
D. Marsden, K. Sege-Petersen, W. L. Nyhan, W. Roschinger and L. Sweetman
Department 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.
