Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.
Complementation analysis, using peroxisomal beta-oxidation of very long chain fatty acids (VLCFA) as the criterion for complementation, is useful in the study of patients who are suspected of having a single enzyme defect in the peroxisomal beta-oxidation pathway. Laboratory findings for these patients include elevated plasma VLCFA and impaired VLCFA oxidation in fibroblasts. Some of these patients have slightly abnormal phytanic acid oxidation in fibroblasts. In addition, elevated levels of bile acid intermediates have been reported in some cases. Plasmalogen synthesis, pipecolic acid levels, and subcellular distribution of catalase are normal. Using complementation analysis, we show that six patients, who were suspected of having a single enzyme defect in the peroxisomal beta-oxidation pathway, are deficient in peroxisomal bifunctional enzyme [enoyl-CoA hydratase (EC 4.2.1.17)/3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)] activity. This group of six patients, deficient in bifunctional enzyme activity, may be subdivided into two complementation groups. It would appear that patients in each of these two groups are deficient in only one of the bifunctional enzyme activities.
McGuinness
M C
MC
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Moser
A B
AB
Poll-The
B T
BT
Watkins
P A
PA
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000326:Adrenoleukodystrophy / Q000201:enzymology; D002460:Cell Line; D004746:Enoyl-CoA Hydratase / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D015151:Immunoblotting; D008830:Microbodies / Q000201:enzymology*; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism; D015211:Zellweger Syndrome / Q000201:enzymology
D005227:Fatty Acids; D010831:Phytanic Acid; D015094:3-Hydroxyacyl CoA Dehydrogenases; D004746:Enoyl-CoA Hydratase