DEOXYNUCLEOSIDE THERAPY OF DISEASES CAUSED BY UNBALANCED NUCLEOTIDE POOLS, INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES Russian patent published in 2020 - IPC A61K31/7068 A61K31/7072 A61K48/00 G01N33/50 C12Q1/6827 

FIELD: medicine.

SUBSTANCE: there are presented methods of treating thymidine kinase 2 deficiency (TK2), including administering a therapeutically effective amount of a composition containing a mixture of deoxycytidine (dC) and deoxythymidine (dT). Disclosed are methods of treating TK2 involving TK2 gene sequence analysis, determining the presence of a TK2 deficiency in a subject if a homozygous mutation or complex heterozygous mutations in the TK2 gene are detected and administering a therapeutically effective amount of the composition containing a mixture of dC and dT, wherein the therapeutically effective amount ranges from 100 mg/kg/day to 1000 mg/kg/day of said deoxynucleosides in the composition.

EFFECT: presented group of inventions provides effective treatment of TK2 deficiency.

29 cl, 5 ex, 7 dwg