APPLICATION OF THIN-LAYER CHROMATOGRAPHY OF OLIGOSACCHARIDES FOR SELECTIVE BIOCHEMICAL SCREENING OF LYSOSOMAL STORAGE DISORDERS

Oligosacchariduria, caused by different forms of lysosomal storage disorders (LSD), is characterized by the presence of specific fractions of oligosaccharides in urine, which are not observed for healthy individuals of the respective age category. The patients with sialidosis had specific fractions of oligosaccharides in the region of Rlac 0.20 and 0.75 with no other fractions present. In case of a-mannosidosis there was evident excretion of a number of oligosaccharides, different in their mobility, with the Rlac value from 0.043 to 0.7, which is not remarkable for healthy individuals of the older age category. The thin layer chromatography (TLC) plates of patients with GM1-gangliosidosis, galactosialidosis and MPS І, ІІ and IVB type had remarkable evident and well-stained groups of pathological fractions of oligosaccharides with the value of Rlac<0.15, which correspond to hepta- and octasaccharides, not present in healthy individuals of all the age groups.

The TLC method of urine oligosaccharides allows narrowing the search groups of patients who are assumed to have LSD, thus it may be recommended for application in the course of selective biochemical screening of LSD patients, accompanied with oligosacchariduria.