Ukr.Biochem.J. 2015; Volume 87, Issue 3, May-Jun, pp. 107-115


Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides

N. Y. Mytsyk1,2, N. V. Olkhovych1,2, N. G. Gorovenko2,3

1National Children’s Specialized Hospital Ohmatdyt, Kyiv, Ukraine;
2SI Institute of Genetic and Regenerative Medicine, NAMS of Ukraine, Kyiv;
3P. L. Shupyk National Medical Academy of Postgraduate Education, Kyiv, Ukraine;

Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure of degradation of some glycoproteins and glycolipids, causing the accumulation of specific undegraded substrates in the lysosomes of cells, the formation of the great number of oligosaccharide chains and their increased excretion with urine. Our work was aimed at detailed study of the specificities of interpreting the results of thin-layer chromatography (TLC) of urine oligosaccharides in healthy persons of different age groups with the purpose of further application of these data while differentiating the norm and pathology in the course of primary selective screening of lysosomal storage disorders. The results obtained demonstrated that TLC plates for the majority of healthy persons had insignificant excretion of a number of oligosaccharides (from monosaccharides to hexasaccharides) with Rlac > 0.15, which can be characterized as physiological oligosacchariduria, conditioned by the metabolism specificities in lysosomes. Therefore while interpreting the urine samples of patients with the suspected lysosomal storage disorder it is diagnostically reasonable to examine the TLC plates for the presence of both oligosaccharide groups, absent in the samples of healthy persons, and all the fractions with Rlac < 0.15.

Keywords: , , ,


  1. Murray R. K., Granner D. K., Mayes P. A., Rodwell V. W. Harper’s Biochemistry. M.: Myr, 1993:299-309. (In Russian).
  2. Blau N, Duran M, Gibson MK. Laboratory Guide to the Methods in Biochemical Genetics. Springer, 2008:325-331. CrossRef
  3. Sewell AC. Urinari oligosaccharides. Techni­ques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, 1991:219-231.
  4. Mehta A., Winchester B. Lysosomal storage disorders: а practical guide. Wiley-Blackwell, 2012:6-46. CrossRef
  5. Palo J, Savolainen H. Studies on serum and urinary glycopeptides and glycosaminoglycans in aspartylglucosaminuria. Clin Chim Acta. 1972 Feb;36(2):431-7. PubMed, CrossRef
  6. Dolgova VV, Menshikov VV. Clinical laboratory diagnostics. GEOTAR-media, 2013;1:928 p. (In Russian).
  7. Kumlien J, Chester MA, Lindberg BS, Pizzo P, Zopf D, Lundblad A. Urinary excretion of a glucose-containing tetrasaccharide. A parameter for increased degradation of glycogen. Clin Chim Acta. 1988 Aug 15;176(1):39-48. PubMed, CrossRef
  8. Moreno FJ, Sanz ML. Food oligosaccharides: production, analysis and bioactivity. Wiley-Blackwell, 2014; 552 р. CrossRef
  9. Kurczynski TW, Kendzierski KS, Sewell AC, Kuczynski TW. Urinary oligosaccharides in pregnant or lactating women: pitfall in screening. Clin Chem. 1993 Nov;39(11 Pt 1):2346-7. Erratum in: Clin Chem 1993 Dec;39(12):2541. PubMed
  10. Boehm G, Stahl B. Oligosaccharides from milk. J Nutr. 2007 Mar;137(3 Suppl 2):847S-9S. Review. PubMed
  11. Rybakova KD, Kuz’micheva NA. Biochemical methods of diagnosis of hereditary diseases. Moscow, 1984:32-35. (In Russian).
  12. Geiss F. Basics TLC. Moscow, 1999;1:176-188. (In Russian).
  13. Sewell AC. Simple laboratory determination of excess oligosacchariduria. Clin Chem. 1981 Feb;27(2):243-5. PubMed
  14. Krasnopolskaya KD. Hereditary diseases of a metabolism. The handbook for doctors. Moscow, 2005:24-26. (In Russian).
  15. Zduсczyk Z. Physiological effect of low digestible oligosaccharides in diets for animals and humans. Pol J Food Nutr Sci. 2004;13/54:115-130.
  16. Ovchinnikov YA. Bioorganic chemistry. M.: Prosvesthenie, 1987:496-498. (In Russian).
  17. Gidding SS, Dennison BA, Birch LL, Daniels SR, Gilman MV, Lichtenstein AH, Rattay KT, Steinberger J, Stettler N, Horn LV. Dietary Recommendations for Children and Adolescents. Circulation. 2005 Sep;112(13):2061-75. CrossRef

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License.