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The MTHFD1 gene provides instructions for making an enzyme called methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1. This enzyme is involved in a chemical reaction that helps the body use folic acid (also known as vitamin B9) and convert it into a form that can be used in the production of DNA, RNA, and proteins. The MTHFD1 enzyme also plays a role in the metabolism of amino acids and in the breakdown of certain molecules called nucleotides. Mutations in the MTHFD1 gene can cause a condition called MTHFD1 deficiency, which is characterized by a deficiency in the MTHFD1 enzyme. Symptoms of MTHFD1 deficiency can include anemia, intellectual disability, developmental delays, and a higher risk of developing certain types of cancer. Treatment for MTHFD1 deficiency may include supplements of folic acid and other nutrients, as well as medications to manage symptoms.

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