HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.

Abstract
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders. We present here our 17 years' experience with this assay. Three VLCFA parameters, the level of hexacosanoic acid (C26:0), the ratio of C26:0 to tetracosanoic acid (C24:0), and of C26:0 to docosanoic acid (C22:0), were measured in 1,097 males (hemizygotes) with X-ALD, 1,282 women heterozygous for this disorder, including 379 obligate heterozygotes, 797 patients with other peroxisomal disorders, and 29,600 control subjects. All X-ALD hemizygotes who had not previously received Lorenzo's oil or a diet with a high erucic acid content had increased VLCFA levels, but the application of a discriminant function based on all three measurements is required to avoid the serious consequences of a false-negative result. VLCFA levels are increased at day of birth, thus providing the potential for neonatal mass screening, are identical in the childhood and adult forms, and do not change with age. Eighty-five percent of obligate heterozygotes had abnormally high VLCFA levels, but a normal result does not exclude carrier status. VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl-coenzyme A oxidase, bifunctional enzyme, and 3-oxoacyl-coenzyme A thiolase. In these patients the degree of VLCFA excess correlated with clinical severity.
AuthorsA B Moser, N Kreiter, L Bezman, S Lu, G V Raymond, S Naidu, H W Moser
JournalAnnals of neurology (Ann Neurol) Vol. 45 Issue 1 Pg. 100-10 (Jan 1999) ISSN: 0364-5134 [Print] United States
PMID9894883 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Fatty Acids
Topics
  • Adolescent
  • Adrenoleukodystrophy (blood, genetics)
  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • False Negative Reactions
  • Fatty Acids (blood, genetics)
  • Female
  • Genetic Testing
  • Genotype
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microbodies (genetics, metabolism)
  • Middle Aged
  • Oxidation-Reduction
  • Phenotype
  • Zellweger Syndrome (blood, genetics)

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: