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Publication in Diagnostics

Diagnostics journal (IF 2.489, Q2) published an article by the researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (the Lab Head is E.Yu. Zakharova, Doctor of medical science): 

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Baydakova G., Ilyushkina A., Gaffke L., Pierzynowska K., Bychkov I., Ługowska A., Węgrzyn G., Tylki-Szymanska A., Zakharova E.

Globotrioosylsfingozine (LysoGb3), a biomarker of Fabry's disease, is a deacylated form of globotrioosylsfingolipid. No previously published data on changes in LysoGb3 concentration at mucopolysaccharidosis (MPS) have been available.  It has been established that the increase of this metabolite level is observed in neuropathic forms of MPS, but at MPS types IV and VI the values remain at the level of the control group. It was shown that patients with MPS I under treatment had the same level of metabolite as the control group.  This indicates that LysoGb3 can be used as a biomarker to determine the effectiveness of enzyme substitution therapy for MPS I.

Diagnostics 2020 March https://doi.org/10.3390/diagnostics10030155