Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis

Journal of Inherited Metabolic Disease

Volumn 21, Issue 7, 1998, Pages 753-760

  Verhoeven, N M ^a   Jakobs, C ^a   Ten Brink, H J ^a   Wanders, R J A ^b   Roe, C R ^c  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE DERIVATIVE; PHYTANIC ACID;

ARTICLE; CHONDRODYSPLASIA PUNCTATA; DISORDERS OF PEROXISOMAL FUNCTIONS; FIBROBLAST; HUMAN; HUMAN CELL; OXIDATION; REFSUM DISEASE; TANDEM MASS SPECTROMETRY;

CARNITINE; CELLS, CULTURED; FATTY ACIDS; FIBROBLASTS; HUMANS; OXIDATION-REDUCTION; PEROXISOMAL DISORDERS; PHYTANIC ACID;

EID: 0031721324     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005449200468     Document Type: Article

References (17)

1. Bradford MM (1976) A rapid and sensitive method for the quantification of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72: 248-254.
2. Heikoop JC, Van Roermund CWT, Just WW, et al (1990) Rhizomelic chondrodysplasia punctata: deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. J Clin Invest 86: 126-130.
3. 3H] pristanic acid in cultured fibroblasts from children with peroxisomal disorders. Scand J Clin Lab Invest 56: 211-217.
4. Lazarow PB, Moser HW (1995) Disorders of peroxisome biogenesis. In Scriver CR, Beaudet AL, Sly WS, Valle DS, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2287-2324.
5. Lazarow PB, De Duve C (1976) A fatty acyl-CoA oxidizing system in rat liver peroxisomes: enhancement by clofibrate, a hypolipidemic drug. Proc Natl Acad Sci USA 73: 2043-2046.
6. McGuinness MC, Moser AB, Poll-The BT, Watkins PA (1993) Complementation analysis of patients with intact peroxisomes and impaired peroxisomal β-oxidation. Biochem Med Metab Biol 49: 228-242.
7. Nada MA, Rhead WJ, Sprecher H, Schulz H, Roe CR (1995) Evidence for intermediate channeling in mitochondrial β-oxidation. J Biol Chem 270: 530-535.
8. Paton BC, Sharp PC, Crane DI, Poulos A (1996) Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal β-oxidation defects. J Clin Invest 97: 681-688.
9. Singh H, Usher S, Johnson D, Poulos A (1990) A comparative study of straight chain and branched chain fatty acid oxidation in skin fibroblasts from patients with peroxisomal disorders. J Lipid Res 31: 217-225.
10. Singh H, Brogan M, Johnson D, Poulos A (1992) Peroxisomal β-oxidation of branched fatty acids in human skin fibroblasts. J Lipid Res 33: 1597-1605.
11. ten Brink HJ, Jakobs C, van der Baan JL, Bickelhaupt F (1989) Synthesis of deuterium labeled analogues of pristanic acid and phytanic acid for use as internal standards in stable isotope dilution analysis. In Baillie TA, Jones JR, eds. Synthesis and Applications of Isotopically Labeled Compounds. Amsterdam: Elsevier, 717-722.
12. ten Brink HJ, Stellaard F, van den Heuvel CMM, Kok RM, Schor DSM, Wanders RJA, Jakobs C (1992a) Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res 33: 41-47.
13. ten Brink HJ, Schor DSM, Kok RM, et al (1992b) In vivo study of phytanic acid α-oxidation in classic Refsum's disease and chondrodysplasia punctata. Pediatr Res 32: 566-570.
14. van Veldhoven PP, Huang S, Eyssen HJ, Mannaerts GP (1993) The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disorders. J Inher Metab Dis 16: 381-391.
15. Verhoeven NM, Roe DS, Wanders RJA, Jakobs C, Roe CR (1998) Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in human fibroblasts. J Lipid Res 39: 66-74
16. Wanders RJA, Schutgens RBH, Barth PG (1995) Peroxisomal disorders: a review. J Neuropathol Exp Med 54: 726-739.
17. Wanders RJA, Smit W, Heymans HSA, et al (1987) Age related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome. Clin Chim Acta 166: 45-56.