MTHR (Methylene Tetrahydrofolate Reductase Deficiency) is a genetic disorder that causes developmental and motor deficiences. A person is born with the deficiency and the severity of the condition at birth determines the severity of the symptoms.
The symptoms of MTHR can range from no visible symptoms in the case of a very mind MTHR deficiency, all the way up to major developmental and motor deficiences such as mental retardation, problems with gait and walking, and even death.
A diagnosis of MTHR must be done by a qualified physician:
- MTHR is typically diagnosed with a blood test. The blood test will determine the total fetal or infant level of homocysteine concentrations in the blood stream.
- Additional genetic testing may also be necessary, depending on the results of the blood test and the circumstances.
Treatment for the MTHR deficiency generally has to be accomplished rapidly and with a great deal of aggressive therapy. Because of the very severe potential for life threatening issues which can arise from a MTHR deficiency, there are a number of treatments that have been put forward to attempt to mediate the severity of the disease:
- Folic Acid - One of the common treatments that is used is the introduction of folic acid and other folate compounds into the blood stream so that the body can absorb them and begin to benefit from the presence of the proper amount of folic acid.
- Methylene Tetrahydrofolate - If the folic acid treatments have proven to be ineffective in kick starting the production of the proper minerals within the body's cells, then additional treatment measures become necessary. This may involve the introduction of methylene tetrahydrofolate into the body. This becomes important in the case of MTHR deficiency treatment, because in many cases, the body is unable to synthesize this mineral by itself, even after folic acid has been initially introduced.
- Methionine - A final potential treatment involves taking steps to raise the methionine levels in the blood stream, since some of the problem that leads to an MTHR deficiency in the first place is a low methionine level. The low methionine level is part of what leads to the body’s inability to make the MTHR production on its own inside the cells.