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Article

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.

Proceedings of the National Academy of Sciences of the United States of America - 13 Jan 2015

Field Martha S, Kamynina Elena, Watkins David, Rosenblatt David S, Stover Patrick J

Abstract excerpt

An inborn error of metabolism associated with mutations in the human methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene has been identified. The proband presented with SCID, megaloblastic anemia, and neurologic abnormalities, but the causal metabolic impairment is unknown. SCID has been associated with impaired purine nucleotide metabolism, whereas megaloblastic anemia has been associated with impaired de...

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Source

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Identifiers

PMID: 25548164
DOI: 10.1073/pnas.1414555112
PMCID: PMC4299200

Genes

MTHFD1

Provenance

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