Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects

The Journal of Clinical Investigation
B C PatonA Poulos

Abstract

Pristanic acid oxidation measurements proved a reliable tool for assessing complementation in fused heterokaryons from patients with peroxisomal biogenesis defects. We, therefore, used this method to determine the complementation groups of patients with isolated defects in peroxisomal beta-oxidation. The rate of oxidation of pristanic acid was reduced in affected cell lines from all of the families with inherited defects in peroxisomal beta-oxidation, thus excluding the possibility of a defective acyl CoA oxidase. Complementation analyses indicated that all of the patients belonged to the same complementation group, which corresponded to cell lines with bifunctional protein defects. Phytanic acid oxidation was reduced in fibroblasts from some, but not all, of the patients. Plasma samples were still available from six of the patients. The ratio of pristanic acid to phytanic acid was elevated in all of these samples, as were the levels of saturated very long chain fatty acids (VLCFA). However, the levels of bile acid intermediates, polyenoic VLCFA, and docosahexaenoic acid were abnormal in only some of the samples. Pristanic acid oxidation measurements were helpful in a prenatal assessment for one of the families where previous e...Continue Reading

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Citations

Feb 13, 2001·Molecular and Cellular Endocrinology·G MöllerJ Adamski
Apr 16, 1998·Proceedings of the National Academy of Sciences of the United States of America·E G van GrunsvenR J Wanders
Jul 13, 1999·Human Molecular Genetics·E G van GrunsvenR J Wanders
Dec 31, 2005·American Journal of Human Genetics·Sacha FerdinandusseTuomo Glumoff
Jan 23, 1999·American Journal of Human Genetics·E G van GrunsvenR J Wanders
Oct 24, 2006·Biochimica Et Biophysica Acta·Steven J SteinbergHugo W Moser
Nov 20, 1998·Journal of Inherited Metabolic Disease·N M VerhoevenC R Roe
Jan 13, 2005·Journal of Molecular Biology·Kristian M KoskiTuomo Glumoff
Jun 13, 2006·Biochimica Et Biophysica Acta·Steven HuyghePaul P Van Veldhoven

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