Complementation analysis of fatty acid oxidation disorders. J Clin Invest 1987 Jan;79(1):59-64
Date
01/01/1987Pubmed ID
3793932Pubmed Central ID
PMC423985DOI
10.1172/JCI112808Scopus ID
2-s2.0-0023155640 (requires institutional sign-in at Scopus site) 92 CitationsAbstract
We assayed [9,10(n)-3H]palmitate oxidation by fibroblast monolayers from patients with fatty acid oxidation disorders. Activities in the different disorders were (percent control): short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (115%), medium chain acyl-CoA dehydrogenase deficiency (18%), long-chain acyl-CoA dehydrogenase deficiency (28%), multiple acyl-CoA dehydrogenation disorder, mild and severe variants (49% and 7%), and palmityl-carnitine transferase deficiency (4%). Multiple acyl-CoA dehydrogenation disorder, medium chain acyl-CoA dehydrogenase-deficient lines, and long-chain acyl-CoA dehydrogenase-deficient lines all complemented one another after polyethylene glycol fusion, with average activity increases of 31-83%. We detected two complementation groups in the severe multiple acyl-CoA dehydrogenation disorder lines, consistent with deficiencies of either electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase. The metabolic block in the latter cell lines is threefold more severe than in the former (P less than 0.001). No intragenic complementation was observed within either group. We assigned two patients with previously unreported severe multiple acyl-CoA dehydrogenation disorder to the electron transfer flavoprotein:ubiquinone oxido-reductase-deficient group.
Author List
Moon A, Rhead WJAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acyl-CoA Dehydrogenase, Long-ChainCells, Cultured
Fatty Acids
Genetic Complementation Test
Humans
Hybrid Cells
In Vitro Techniques
Lipid Metabolism, Inborn Errors
Palmitates
