Differential diagnostics of lysosomal storage disorders using oxysterol assay
Abstract
Lipidoses is a group of inherited lysosomal diseases, characterized by accumulation of complex lipids in the tissues. The aim of this study was to evaluate the levels of oxysterols: cholestan-3b,5a,6b-triol (C-triol) and 7-ketocholesterol (7-KC) at four lysosomal diseases from the lipidoses group and in heterozygous carriers of Niemann-Pick (NP) type C and Niemann-Pick type A/B diseases. Increased levels of cholestan-3b,5a,6b-triol were found at NP-C, NP-A/B, and deficiency of lysosomal acid lipase (LAL-D). The level of C-triol was not increased in Gousher’s syndrome patients. An increased average concentration of cholestan-3b,5a,6b-triol was also revealed in heterozygous carriers of Niemann-Pick type C disease. A diagnostically significant cholestan-3b,5a,6b-triol/7-ketocholesterol ratio was proposed that can improve laboratory differential diagnostics of these diseases. The oxysterol assay can be used as a biochemical technique for selective screening of the risk groups for these diseases.
About the Authors
T. Y. Proshlyakova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
G. V. Baydakova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. A. Kamenets
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. V. Mikhailova
Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
V. A. Malakhova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. Y. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Proshlyakova T.Y., Baydakova G.V., Kamenets E.A., Mikhailova S.V., Malakhova V.A., Zakharova E.Y. Differential diagnostics of lysosomal storage disorders using oxysterol assay. Medical Genetics. 2016;15(12):37-41. (In Russ.)
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