Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland.

Abstract

Peroxisomal disorders are a large group of genetically determined metabolic diseases in which the biogenesis of peroxisomes is defective or there is a deficiency of only a single enzyme activity or substrate transporter. The objective of this report is to present ten years of experience in the diagnostics of peroxisomal disorders in Poland. Very-long-chain fatty acid (VLCFA) levels as a biomarker for peroxisomal defects were determined by gas chromatography in 1264 subjects with suspicion of peroxisome disease. Peroxisome biogenesis disorders (PBD) were diagnosed in 8 patients, bifunctional protein deficiency in 3 and X-linked adrenoleukodystrophy (X-ALD/AMN) in 127 hemi- or heterozygotes. The frequency of PBD was estimated as 0.20 : 100 000, and that of X-ALD/AMN 2.9 : 100,000 in Poland. Mean total delay time (onset of symptoms and diagnosis) for X-ALD/AMN was 2.2 years (range 0.25-13). High correlation of serum C26:0 concentration and survival for PBD patient (r2 = 0.822; p < 0.001) was found.

• Authors: Teresa Joanna Stradomska, Anna Tylki-Szymańska
• Journal: Folia neuropathologica (Folia Neuropathol) Vol. 47 Issue 4 Pg. 306-13 ( 2009) ISSN: 1509-572X [Electronic] Poland
• PMID: 20054782 (Publication Type: Journal Article)

Chemical References

• Fatty Acids

Topics

• Adolescent
• Adult
• Analysis of Variance
• Blood Chemical Analysis
• Child
• Child, Preschool
• Chromatography, Gas
• Fatty Acids (blood)
• Female
• Humans
• Infant
• Male
• Middle Aged
• Peroxisomal Disorders (blood, diagnosis)
• Poland