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Article

X-linked Adrenoleukodystrophy, The Tunisian experience

Nasrallah Fahmi, zidi wiem, OMAR Souheil, SANHAJI Haifa, FEKI Moncef, KAABACHI Naziha, 2015

International Journal of Heat and Mass Transfer , 1531-6, 2015;61(10), Avril 2015

Résumé

X-linked adrenoleukodystrophy is a genetic disease affecting the degradation of very long chain fatty
acids. This study is 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: During the last 21 years, 19 patients were diagnosed with X-linked adrenoleukodystrophy based on the
clinical features combined with the area percentage of hexacosanoic acid (C26:0) as well as the ratio of C26:0 and
lignoceric acid (C24:0) relative to behenic acid (C22:0) by gas chromatography. For the biochemical diagnosis of
X-ALD with better accuracy, it has been desired to transform the numerical values of these biochemical markers
into visually discriminating patterns.
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.
(Clin. Lab. 2015;61:xx-xx. DOI: 10.7754/Clin.Lab.2015.150318)