Homocystinuria due to MTHFR deficiency

What causes homocystinuria due to MTHFR deficiency?

Homocystinuria due to MTHFR deficiency is caused by mutations in the MTHFR gene. This gene tells the body how to make an enzyme, also called MTHFR. MTHFR is important for a chemical reaction in the body involving forms of the vitamin folate. Mutations in the MTHFR gene result in an enzyme that doesn't work like it should, causing a buildup of homocysteine in the body.

Last updated on 05-01-20

How is homocystinuria due to MTHFR deficiency inherited?

Homocystinuria due to MTHFR deficiency is inherited in an autosomal recessive fashion, which means that both copies of the gene in each cell have mutations in the MTHFR gene.

For more information on the inheritance of common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene mutation

Last updated on 05-01-20

How is homocystinuria due to MTHFR deficiency treated?

Treatment of MTHFR deficiency involves taking betaine, folinic acid, Vitamins B6 and B12, methionine, and methyltetrahydrofolate supplements. If MTHFR deficiency is diagnosed early and betaine treatment is started right away, affected infants have a much better developmental outcome. Treatments started later do not reverse symptoms but can cause favorable improvements in symptoms.

Last updated on 05-01-20

Where To Start

LabTest Online - Homocystenemia

LabTests Online provides information on testing homocysteine levels in general. Click on LabTests Online to view the information page.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
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Name: National Blood Clot Alliance 8321 Old Courthouse Road Suite 255
Vienna, VA, 22182, United States
Phone: +1-703-935-8845 Toll Free: 1-877-466-2568 (877-4NO-CLOT) Email: info@stoptheclot.org Url: https://www.stoptheclot.org/
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Name: Genetic Metabolic Dietitians International P.O. Box 1462
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Email: info@gdmi.org Url: http://www.gmdi.org/
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Phone: 630-360-2087 Email: info@hcunetworkamerica.org Url: http://hcunetworkamerica.org/

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