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.
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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)
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Chemical References |
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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
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