The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal
 Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The
 investigators hope to learn more about the disease of MNGIE as well as develop useful
 measures of disease status for use in future clinical trials.

 Additional clinical centers will be listed as they become available.
The investigators will examine a total of 20 patients at six month intervals for up to five
 years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy,
 neuropsychological capability, quality of life, nutrition, motor function and biochemical
 parameters.
Inclusion Criteria:

 1. Thymidine Phosphorylase (TP) defect:

 1. homozygous or

 2. compound heterozygous mutations in the TYMP gene, and/or

 3. TP enzyme activity of <20% of normal.

 2. Increased plasma Thd > 3 micromole/L

 3. Increased plasma dUrd > 7.5 micromole/L

 4. Age requirement of at least 5 years of age.

 Exclusion Criteria:

 1. Participation in an interventional (study medication or other experimental
 intervention) study (within 1 month of participation in this study).

 2. Unable to travel to site for research visits.

 3. Unwillingness to sign informed consent form.

 4. Substance abuser