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.
Dr Vivek Mahajan