American journal of diseases of children (1960) · 1992
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
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Marsden D, Sege-Petersen K, Nyhan W L, Roschinger W, Sweetman L
Аннотация
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.
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.