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

Teresa Joanna Stradomska; Anna Tylki-Szymańska

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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4/2009
vol. 47

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abstract:

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

Teresa Joanna Stradomska

,

Anna Tylki-Szymańska

Folia Neuropathol 2009; 47 (4): 306-313

Online publish date: 2009/12/29

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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.

keywords:

peroxisomal disorders, Zellweger syndrome, neonatal adrenoleukodystrophy, bifunctional protein deficiency, adrenoleukodystrophy, very long chain fatty acids (VLCFA)

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

Teresa Joanna Stradomska , Anna Tylki-Szymańska

peroxisomal disorders, Zellweger syndrome, neonatal adrenoleukodystrophy, bifunctional protein deficiency, adrenoleukodystrophy, very long chain fatty acids (VLCFA)

Teresa Joanna Stradomska

,

Anna Tylki-Szymańska