Resolved question:
This question regards my 15 year old daughter.
She is in good health with no major problems but she has been struggling with increasing depression over the past few months. We've taken her to a psychiatrist and he ordered some bloodwork. Specifically, the psychiatrist was looking for the MTHFR mutation. The test came back positive for this mutation, and the psychiatrist prescribed Delpin (15g), which should be delivered to us any day now.
I am seeking your input now because the labwork gives stern warning, not about depression, but about coronary disease. Quoting from the labwork:
"One copy of each of the MTHFR gene mutations tested, C677T and A1298C, was detected. The mutations are rarely found on the same chromosome; thus, this genotype is predicted to be associated with a poor metabolizer phenotype characterized by increase plasma homocysteine levels. This individual is at an increased risk for arteriosclerotic coronary disease and venous thrombosis as well as for toxicity from medications affecting folate metabolism."
Our focus thus far has been on her depression but I realize that this coronary issue needs to be
taken under advisement as well. My question for you is this: Are there any measures we can, and should take right now, at age 15, to address the lab report's warning? I understand that the problem here is her body's inability to process folic acid into folate. Delpin will provide mega doses of methylfolate which the psychiatrist hopes will balance her biochemestry and thus stabilize her mood. Will Delpin also be of benefit to the potential heart issue? Is there anything else she should consider taking? I've also be reading about a condition called homocystinuria and wonder if this is something she should be tested for. Otherwise, at what age would you recommen she start seeing a cardiologist?
Thank you for any information you can provide.
Derek Chambers
Submitted:
4 Days
Category:
Cardiologist
Hello
Thank you for your query at doctorspring.com.
You need t differentiate between two diseases. One is homocysteinemia and the other is homocystinuria. Your psychiatrist probably was searching for this gene mutation for homocystinuria.
At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria. Most of these mutations change single amino acids in methylenetetrahydrofolate reductase. These changes impair the function of the enzyme, and some cause the enzyme to be turned off (inactivated). Other mutations lead to the production of an abnormally small, nonfunctional version of the enzyme. Without functional methylenetetrahydrofolate reductase, homocysteine cannot be converted to methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. Some of the excess homocysteine is excreted in urine. Researchers have not determined how altered levels of homocysteine and methionine lead to the health problems associated with homocystinuria.
Are her homocystein levels elevated?
Are her blood methionine levels tested.. these will help to identify homocystinuria if elevated.
Unless homocysteine levels are elevated it doesn't lead to increased cardiovascular and thrombotic risk. Even if she has mthfr mutation if the homocysteine levels are normal there is no added risk.
Though there is no evidence that treatment if high homocysteine levels with high dose folate reduces the risk. Still it is prudent to treat high homocysteine levels witjhigh dose folate as In your case.
If it's homocystinuria vit b6 is treatment of choice.
There is no need to have preventive measures to a cardiologist. But following precautions like folate supplements is a must.
Hope this helps, would be glad to answer any follow-ups.
Regards
Dr Vivek Mahajan
DM Cardiology