Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
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.
Tonsgard
J H
JH
Department of Pediatrics, Pritzker Medical School, University of Chicago, Illinois 60637.
Stephens
J K
JK
Rhead
W J
WJ
Penn
D
D
Horwitz
A L
AL
Kirschner
B S
BS
Whitington
P F
PF
Berger
S
S
Tripp
M E
ME
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D002331:Carnitine / Q000097:blood / Q000652:urine; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010084:Oxidation-Reduction; D010168:Palmitates / Q000378:metabolism
D005227:Fatty Acids; D010168:Palmitates; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine