My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state.
You can read more here.
We have just received the results of my son’s muscle enzyme analysis. The report says its completely normal. Instead of low enzyme levels, a common finding in mitochondrial disease, his levels are high in 3 different complexes.
We have reached the end of diagnostic options. His doctor says our last option is Whole Exome Sequencing (WES).
So far we have a mild muscle involvement, dysmotility, and ketoacidosis with hypoglycaemia. He fits no profile for metabolic disorders and was negative for the mitochondrial disorders (the 22 most common). His muscle biopsy was basically normal though did not rule out mitochondrial disease.
Right now I’m considering our options. He is doing really well with the G-tube and has put on around 5 kg in 2 months after not gaining for 2 years. So on the one hand, things are going well. I’m disinclined to pursue any invasive or painful tests for now. Intestinal biopsy is on the table due to the intestinal issues, but since things are going well, no one (including me) is very interested in pursuing this option.
Basically, we are left with WES and getting a second opinion. I’m inclined to do the latter as I really need some new eyes to look at his issues.
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:
Update: His MNGIE test is negative. However, his doctor keeps noting it as his clinical presentation is quite similar.
I am going to use this blog to write about current research in medicine and other topics I find interesting. I’m not a doctor or a researcher, but I have an amateur interest in medicine and desire to learn more.