A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

Overview of attention for article published in Molecular Genetics and Metabolism Reports, November 2019

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I said MTHFS not MTHFR. They are two different genes. MTHFS is responsible for the conversion of folinic acid into 5,10-methenylt…

Yes. If you have MTHFS. With the MTHFS gene, folinic acid should be avoided. Certain MTHFS gene variants affect the way…

As far as I know you can only get decreased MTHFS activity not increased. A decrease in MTHFS activity means that folinic acid…

That doesn't sound right. In this article: https://www.sciencedirect.com/science/article/pii/S2214426919301429 The article…

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