Use

Thymidine phosphorylase Enzyme Analysis is used for the diagnosis of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Thymidine phosphorylase Enzyme Analysis may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencung testing). MNGIE is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). The disease is characterized clinically by impaired eye movements, gastrointestinal dysmotility, cachexia, peripherl neuropathy, myopathy, and leukoencephalopathy. Molecular genetic studies of MNGIE patients' tissues have reveled mutlitple deletions, depletion, and site-specific point mutations of mitochondrial DNA. TP is a cytosolic enzyme required for nucleoside homeostasis. In MNGIE, TP activity is severely reduced and consequently levels of thymidine and deoxyuridine in plasma are drmatically elevated. MNGIE may benefit from hematopoietic stem cell transplantation.