Patients with confirmed mitochondrial DNA depletion syndrome 2 (thymidine kinase 2 \[TK2\] deficiency) have reduced levels of nucleotides (deoxythymidine monophosphate and deoxycytidine monophosphate) for mitochondrial DNA synthesis. This results in mitochondrial DNA depletion syndrome (i.e less number of functional mitochondrial DNA). Patients with confirmed TK2 deficiency will be treated with open label deoxythymidine (dThd) and deoxycytidine (dCyt), which are nucleotide precursors, with the expectation that the cells could make additional mitochondrial DNA. This in turn may help reduce the clinical symptoms.
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Alanine aminotransferase
Timeframe: Up to 60 months
Aspartate aminotransferase
Timeframe: Up to 60 months
Gamma-glutamyltransferase
Timeframe: Up to 60 months
Blood lymphocyte count
Timeframe: Up to 60 months
Creatinine
Timeframe: Up to 60 months
Electrocardiogram
Timeframe: Up to 60 months
Diarrhea
Timeframe: Up to 60 months