Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is associated with mitochondrial dysfunction caused by accumulation of thymidine and deoxyuridine.


Chromosome location: 22q13.33

Gene: TYMP

Protein affected: thymidine phosphorylase (TP)


Inheritance: autosomal recessive


Clinical features:

(1) leukoencephalopathy

(2) external ophthalmoplegia

(3) peripheral polyneuropathy

(4) cachexia

(5) enteric neuromyopathy with gastrointestinal dysmotility


Laboratory testing shows elevated plasma concentrations of thymidine and deoxyuridine.


Untreated the disease shows a progressive course with death during adulthood secondary to neuromuscular failure and/or malnutrition.


Therapeutic approaches may include:

(1) allogeneic hematopoietic stem cell transplant (AHSCT)

(2) infusion of erythrocyte encapsulated recombinant TP from E.coli (EE-TP), using the patient’s own red blood cells


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