Defect in fatty acid oxidation: Laboratory and pathologic findings in a patient

James H. Tonsgard*, Janet K. Stephens, William J. Rhead, Duna Penn, Allen L. Horwitz, Barbara S. Kirschner, Peter F. Whitington, Stuart Berger, Marjorie E. Tripp

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)125-130
Number of pages6
JournalPediatric neurology
Issue number2
StatePublished - 1991

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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