Deficiency of the methylenetetrahydrofolate reductase enzyme increases risks of psychiatric disorders, neural tube defects and high blood pressure during pregnancy, according to the National Institutes of Health. MTHFR deficiency is a mild condition that poses no health risks to the majority of people with the condition, according to counsyl.com.
The MTHFR enzyme plays a role in the conversion of homocysteine into methionine, the amino acids used by the body to make proteins and other compounds, according to counsyl.com. MTHFR deficiency leads to increased levels of homocysteine in the bloodstream, while methionone levels decline. The condition interferes with blood pressure, with increased effects among pregnant women.
MTHFR deficiency causes neural tube defects including spina bifida, a condition in which the bones of the spinal column fail to close completely during formation. This results from the reduced ability of the body to process folate. However, the condition is not widespread among the people with the deficiency, says the NIH.
Researchers also associate the MTHFR deficiency with stroke, cleft lip, heart diseases and the glaucoma eye disorder. Like with the other diseases resulting from gene mutations, MTHFR deficiency shows large variations among those affected. According to the NIH, genetic and environmental factors influence the symptoms that people with a MTHFR deficiency get.