HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.

Abstract
Phytanic acid accumulation has for more than 20 years been used as a diagnostic criterion of Refsum's disease. Recently, however, phytanic acid has also been found in peroxisomal disorders (Zellweger's syndrome, neonatal adrenoleukodystrophy, infantile Refsum's syndrome, rhizomelic chondrodysplasia punctata). The 17 patients with Refsum's disease in the present study had serum phytanic acid values differing from 73 to less than 0.5 mg/dl (normal). alpha-Oxidation of phytanic acid in skin fibroblast cultures showed a defective capacity in all, with only small differences in residual activity. Phytanic acid determinations in serum from 3 of the 7 patients with peroxisomal disorders showed slightly elevated levels in 2. The alpha-oxidation capacity in the fibroblasts was defective in all, with a residual activity similar to that of Refsum's disease. An assay of the alpha-oxidation capacity may be useful in the diagnosis of both Refsum's disease and the peroxisomal disorders. The distinction between Refsum's disease and the peroxisomal disorders can easily be done on a clinical basis.
AuthorsO H Skjeldal, O Stokke, S Refsum, J Norseth, H Petit
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 77 Issue 1 Pg. 87-96 (Jan 1987) ISSN: 0022-510X [Print] Netherlands
PMID2433405 (Publication Type: Journal Article)
Chemical References
  • Eicosanoic Acids
  • Phytanic Acid
  • Mixed Function Oxygenases
  • Oxidoreductases
  • phytanic acid alpha-oxidase
Topics
  • Adrenoleukodystrophy (blood, enzymology)
  • Adult
  • Aged
  • Eicosanoic Acids (blood)
  • Female
  • Fibroblasts (enzymology)
  • Humans
  • Male
  • Middle Aged
  • Mixed Function Oxygenases
  • Oxidoreductases (metabolism)
  • Phytanic Acid (blood, metabolism)
  • Refsum Disease (blood, enzymology)
  • Skin (enzymology)
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: