Homocystinuria is associated with eye issues, thrombosis, bone fractures, and Alzheimer’s disease.
This article discusses MTHFR genetic mutations and the associated conditions.
It also covers testing recommendations.
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Examples of common ones include the gene mutations MTHFR A1298C and MTHFR C677T.
Only certain, more rare MTHFR variants tend to be associated with health conditions.
Understanding MTHFR Genetic Mutations
Methylenetetrahydrofolatereductase (MTHFR) is an enzyme produced by the MTHFR gene.
The body uses methionine to build protein and other important compounds.
An MTHFR mutation is an error in the MTHFR gene that causes it to malfunction.
U.S. National Library of Science.MTHFR gene (methylenetetrahydrofolate reductase).Genetics Home Reference.
Centers for Disease Control and Prevention.MTHFR gene variant and folic acid facts.
Ansari R, Mahta A, Mallack E, Luo JJ.Hyperhomocysteinemia and neurologic disorders: a review.J Clin Neurol.
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