[HTML][HTML] Altered thymidine metabolism due to defects of thymidine phosphorylase
Mitochondrialneurogastrointestinalencepha… (MNGIE) is an autosomal recessive human
disease due to mutations in the thymidine phosphorylase (TP) gene. TP enzyme catalyzes
the reversible phosphorolysis of thymidine to thymine and 2-deoxy-d-ribose 1-phosphate.
We present evidence that thymidine metabolism is altered in MNGIE. TP activities in buffy
coats were reduced drastically in all 27 MNGIE patients compared with 19 controls. All
MNGIE patients had much higher plasma levels of thymidine than normal individuals and …
disease due to mutations in the thymidine phosphorylase (TP) gene. TP enzyme catalyzes
the reversible phosphorolysis of thymidine to thymine and 2-deoxy-d-ribose 1-phosphate.
We present evidence that thymidine metabolism is altered in MNGIE. TP activities in buffy
coats were reduced drastically in all 27 MNGIE patients compared with 19 controls. All
MNGIE patients had much higher plasma levels of thymidine than normal individuals and …