X-linked adrenoleukodystrothy: some data on the diseases

A review of published data on one of the peroxisome diseases - X-linked adrenoleukodystrophy is presented. The ALD diagnosis concludes in the complex evaluation of paraclinical (neurophysiological, neuroradiological, biochemical, molecular and genetic) data. While researching visual, audial, somatosensory evoked potentials, the rate of conduction a neuro impulse decreases, and the elecvtroencephalogram also registrates disorders. The early diagnosis of the disease is possible at random neuro X-ray screening in children with the early changes in vallums of callosum splenium and in the sibs of the patients with X-ALD both with the presence and without presence of accumulation of contrast agent. The X-ALD laboratory diagnosis includes the use of biochemical, molecular and genetic methods. When conducting the X-ALD diagnosis, the mutations in the ABCD1 gene are found in all cases of examination the X-ALD patients with biochemically verified diagnosis. The low percentage of the same mutations is characteristic for this pathology, the level of de novo mutations is 8-9%. The distribution of the detected mutations in the ABCD1 gene by types is as following: missense mutations are 56-59 %, mutations with a shift of reading frame - 22-27 %, nonsense mutations - about 9%, small amino acid incertions/deletions or slicing mutations are about 4%. Before identification the localization of the ABCD1 gene for prenatal diagnosis, the most efficient approach to the X-ALD prevention was carried out by identification of the ODCZK concentration in the biopsy of chorion and in the cell culture of amniotic fluid. Nowadays the molecular and genetic research is the method of “choice” for the prenatal diagnosis in the X-ALD heterozygous carriers. The inclusion of the X-ALD in the Programs of neonatal biochemical screening of newborns is controversial. At the same time this pathology is characterized by a comparatevely low occurence and also by the specific methods of laboratory diagnosis and treatment that is the most efficient when administered in the presymptomatic period.