Defective oxidation of pristanic acid by fibroblasts from patients with disorders in propionic acid metabolism.
The alpha-methyl fatty acid, pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) is oxidised rapidly by normal skin fibroblasts in culture to CO2 and to water-soluble metabolites. The latter are secreted into the culture medium. Fibroblasts from patients with propionyl CoA carboxylase, and to a lesser extent from patients with methylmalonyl CoA mutase defects, show reductions in the amount of CO2 released, although the production of water-soluble metabolites is not affected. Our data indicate that propionic acid is produced from pristanic acid, and ultimately from its immediate precursor phytanic acid. As phytanic and pristanic acids are significant components of diets rich in ruminant fats, it is likely that they may contribute to the accumulation of propionate and its metabolites in disorders of propionate metabolism.
Poulos
A
A
Department of Chemical Pathology, Adelaide Childrens Hospital, South Australia.
Johnson
D
D
Singh
H
H
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D002460:Cell Line; D005227:Fatty Acids / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D010084:Oxidation-Reduction; D011422:Propionates / Q000378:metabolism*
D005227:Fatty Acids; D011422:Propionates; C002844:pristanic acid; C029658:propionic acid