The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

This natural history study follows patients with MNGIE (Mitochondrial NeuroGastroIntestinal Encephalopathy) — a very rare inherited disease that affects the gut, nervous system, muscles, and eyes — to understand how the disease progresses over time and identify potential treatment targets. You may be eligible if: - You are at least 5 years of age - You have a confirmed MNGIE diagnosis: deficient thymidine phosphorylase (TP) enzyme activity or mutations in the TYMP gene, AND elevated plasma thymidine and deoxyuridine levels You may NOT be eligible if: - You are currently participating in another interventional study - You are unable to travel to the study site - You are unwilling to sign informed consent - You have a substance abuse problem Talk to your doctor to see if this trial is right for you.