title: 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.affiliation: Department of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute Warsaw, Poland. j.de.stradomska@gmail.com
authors.forename: Teresa Joanna
authors.initials: TJ
authors.lastname: Stradomska
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
mesh_terms: D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D001774:Blood Chemical Analysis; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018901:Peroxisomal Disorders / Q000097:blood* / Q000175:diagnosis; D011044:Poland
chemical_list: D005227:Fatty Acids