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Am J Dis Child. 1992 Dec;146(12):1459-62.

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

Author information

1
Department of Pediatrics, University of California-San Diego, La Jolla.

Abstract

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.

[Indexed for MEDLINE]

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