Mitochondrial neurogastrointestinal encephalopathy syndrome

MNGIE can be diagnosed by measuring concentrations of thymidine and deoxyuridine in the blood. Elevated levels of plasma thymidine and deoxyuridine are sufficient to make the diagnosis. In addition, the activity of an enzyme called thymidine phosphorylase can be measured in white blood cells (leukocytes). If the activity of this enzyme is less than 10 percent of normal, the diagnosis of MNGIE is confirmed.^[1]

Genetic testing can also be performed for MNGIE, and it is typically used to identify unaffected carriers of the condition.^[1] First, a DNA sample from an affected individual is tested to identify a change (mutation) in the TYMP gene (also called ECGF1). This gene provides instruction for making the thymidine phoshorylase enzyme. Once a mutation in identified, unaffected family members can undergo genetic testing for that specific mutation.

GeneTests lists the names of laboratories that are performing clinical testing for MNGIE.

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.