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![Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment](https://image.oaes.cc/16535497-9e58-42fb-a094-a9f20cefb03c/3368.fig.1.jpg)
Figure 1. Molecular defect in MNGIE. Pathogenic mutations in the nuclear TYMP gene leads to a deficiency in TP activity, resulting in a plasma and cytosolic accumulation of the enzyme’s substrates, thymidine and 2’-deoxyuridine. This leads to imbalances in the mitochondrial deoxyribonucleotide pools (dTTP and dUTP) and ultimately impaired mtDNA repair. TP: thymidine phosphorylase; MNGIE: mitochondrial neurogastrointestinal encephalomyopathy; mtDNA: mitochondrial DNA