What is it?

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that breaks down the amino acid homocysteine. When this enzyme’s gene is mutated, its function is interfered with and there is too much of it. There can be two variants of the mutations and a person can be either homozygous or heterozygous to the mutation, depending on whether he got the mutated gene from both of his parents or only from one of them. High levels of homocysteine may result in congenital anomalies, mental health conditions, and certain types of cancer.

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Additional names

This group contains additional names:
- Homocystinemia
- Disorder of sulfur-bearing amino acid metabolism
- Sulphur-Bearing Amino-Acid Metabolism Disturbances

Signs & symptoms

Symptoms depend on the severity of the disease. High levels of homocysteine may result in ataxia, numbness and tingling of the hand and feet, blood clots, seizures, microcephaly, scoliosis, anemia, glaucoma, mental health conditions such as depression and behavior disorders.


Suspicion for MTHFR mutation related diseases first arises based upon findings from medical history and physical examination. Then, the diagnosis may be confirmed in genetic testing.


Treatment of MTHFR deficiency includes betaine, folinic acid, Vitamins B6 and B12, methionine, and methyltetrahydrofolate supplements.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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