MNGIE

Mitochondrial Neurogastrointestinal Encephalopathy.

Our son is currently being evaluated for this condition.  It is an autosomal recessive condition, in which each parent contributes one defective TYMP gene, which encodes for Thymidine Phosphorylase. The disease often presents with gastrointestinal motility and eye problems. It often leads to cachexia, peripheral neuropathy, and leukoencephalopathy.

Thymidine Phosphorylase is an enzyme required for DNA maintenance and deficiency results in mitochondrial deletions and abnormalities.

The current recommended treatment for this condition is a bone marrow transplant, which is able to replace the missing enzyme to therapeutic levels in the body. It’s not likely to improve things, though it may stop the course of the disease.

Read more here:

http://link.springer.com/article/10.1007%2Fs10545-010-9049-y

Update: His MNGIE test is negative. However, his doctor keeps noting it as his clinical presentation is quite similar.