An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
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.


METHODS
Case report and definitive biochemical testing.


METHODS
Children's hospital and university laboratory.


METHODS
One teenager.


METHODS
Diagnosis and treatment with carnitine.


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.
Marsden
D
D
Department of Pediatrics, University of California-San Diego, La Jolla.
Sege-Petersen
K
K
Nyhan
W L
WL
Roschinger
W
W
Sweetman
L
L
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000503:physiopathology*; D000641:Ammonia / Q000097:blood; D002331:Carnitine / Q000652:urine; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia; D044943:Fatty Acid Desaturases; D002331:Carnitine