Complementation Analysis of Patients with Intact Peroxisomes and Impaired Peroxisomal β-Oxidation

M. C. Mcguinness, Ann B. Moser, B. T. Pollthe, Paul A Watkins

Research output: Contribution to journalArticle

Abstract

Complementation analysis, using peroxisomal β-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 β-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 β-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.

Original languageEnglish (US)
Pages (from-to)228-242
Number of pages15
JournalBiochemical Medicine and Metabolic Biology
Volume49
Issue number2
DOIs
StatePublished - Apr 1993

Fingerprint

Peroxisomes
Oxidation
Fatty Acids
Enzyme activity
Fibroblasts
Enzymes
Peroxisomal Bifunctional Enzyme
Enoyl-CoA Hydratase
3-Hydroxyacyl-CoA Dehydrogenase
Phytanic Acid
Plasmalogens
Defects
Bile Acids and Salts
Catalase
Normal Distribution
Plasmas

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry

Cite this

Complementation Analysis of Patients with Intact Peroxisomes and Impaired Peroxisomal β-Oxidation. / Mcguinness, M. C.; Moser, Ann B.; Pollthe, B. T.; Watkins, Paul A.

In: Biochemical Medicine and Metabolic Biology, Vol. 49, No. 2, 04.1993, p. 228-242.

Research output: Contribution to journalArticle

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