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

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.

• Authors: J H Tonsgard, J K Stephens, W J Rhead, D Penn, A L Horwitz, B S Kirschner, P F Whitington, S Berger, M E Tripp
• Journal: Pediatric neurology (Pediatr Neurol) 1991 Mar-Apr Vol. 7 Issue 2 Pg. 125-30 ISSN: 0887-8994 [Print] United States
• PMID: 2059253 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Fatty Acids
• Palmitates
• Acyl-CoA Dehydrogenase, Long-Chain
• Carnitine

Topics

• Acyl-CoA Dehydrogenase, Long-Chain (deficiency)
• Carnitine (blood, urine)
• Fatty Acids (metabolism)
• Female
• Humans
• Infant
• Lipid Metabolism, Inborn Errors (metabolism, pathology)
• Liver (metabolism, pathology)
• Microscopy, Electron
• Muscles (metabolism, pathology, ultrastructure)
• Myocardium (metabolism, pathology)
• Oxidation-Reduction
• Palmitates (metabolism)