Abstract | BACKGROUND:
X-linked adrenoleukodystrophy is a genetic disease affecting the degradation of very long chain fatty acids. This study aims to describe the clinical phenotype and biochemical feature of Tunisian patients; it also seeks to describe recognition of pattern analysis on the level of very long chain fatty acids in plasma for the visual discrimination of X-linked patients from a healthy group. METHODS: RESULTS: The clinical features of 19 patients aged between 4 to 47 years were classified into cerebral form (57.8%), adrenomyeloneuropathic (26.3%), and a few patients were asymptomatic. The ratio C24:0/C22:0 ranged from 1.12 to 2.41 (normal value: 0.46 - 0.9) and C26:0/C22:0 ratio ranged from 0.03 to 0.36 (normal value: 0.003 - 0.009). The concentration of fatty acids with 22 or more carbons in body fluid did not change with age in control subjects and patients. For the visual diagnostic of patients, the Scatter plot was a reliable method for the diagnostic patterns of very long chain fatty acids of patients with X-linked adrenoleukodystrophy disorders. CONCLUSIONS: The incidence of X-linked adrenoleukodystrophy disorders is under diagnosed in Tunisia. The diagnosis was confirmed by enzymatic activity study and molecular analysis but the analysis of very long chain fatty acids by gas chromatography remains a reliable tool for the diagnosis and early initiation of the treatment.
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Authors | Fahmi Nasrallah, Ichraf Kraoua, Wiem Zidi, Souheil Omar, Haifa Sanhaji, Moncef Feki, Ilhem Turki Ben Youssef, Naziha Kaabachi |
Journal | Clinical laboratory
(Clin Lab)
Vol. 61
Issue 10
Pg. 1531-6
( 2015)
ISSN: 1433-6510 [Print] Germany |
PMID | 26642716
(Publication Type: Journal Article)
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Chemical References |
- Fatty Acids
- hexacosanoic acid
- behenic acid
- lignoceric acid
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Topics |
- Adolescent
- Adrenoleukodystrophy
(classification, diagnosis, epidemiology)
- Adult
- Child
- Child, Preschool
- Chromatography, Gas
- Family Health
- Fatty Acids
(analysis)
- Female
- Humans
- Male
- Middle Aged
- Pattern Recognition, Automated
- Phenotype
- Reproducibility of Results
- Retrospective Studies
- Tunisia
(epidemiology)
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