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Article

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

European journal of human genetics : EJHG - 1 Jan 2000

Kluijtmans L A, Wendel U, Stevens E M, van den Heuvel L P, Trijbels F J, Blom H J

Abstract excerpt

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of folate metabolism, and is inherited as an autosomal recessive trait. MTHFR is a key enzyme in folate-dependent remethylation of homocysteine, and reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Patients with this severe enzymatic deficiency are biochemically characterised by homocystinuria and...

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Source

Identifiers

PMID: 9781030
DOI: 10.1038/sj.ejhg.5200182

Genes

MTHFR

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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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