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Article

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.

Human mutation - 1 May 2003

Sibani Sahar, Leclerc Daniel, Weisberg Ilan S, O'Ferrall Erin, Watkins David, Artigas Carmen, Rosenblatt David S, Rozen Rima

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological and vascular symptoms. Cloning of the human cDNA and gene has enabled the identification of 29 rare mutations in...

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Source

Identifiers

PMID: 12673793
DOI: 10.1002/humu.10193

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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