Pediatr Neurol. 1991 Mar-Apr;7(2):125-30.

Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.

Tonsgard JH, Stephens JK, Rhead WJ, Penn D, Horwitz AL, Kirschner BS, Whitington PF, Berger S, Tripp ME.

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Department of Pediatrics, Pritzker Medical School, University of Chicago, Illinois 60637.

Abstract

The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.

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