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Article

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

European journal of pediatrics - 1 Jul 2003

Tonetti Carole, Saudubray Jean-Marie, Echenne Bernard, Landrieu Pierre, Giraudier Stéphane, Zittoun Jacqueline

Abstract excerpt

UNLABELLED: Methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive disorder resulting in elevated homocysteine levels in plasma and urine. MTHFR catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine remethylation to methionine. MTHFR deficiency may be diagnosed from infancy to adulthood with a broad spectrum of clinical symptoms. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperhomocysteinemia

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Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Polymorphism, Genetic

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Source

Identifiers

PMID: 12733064
DOI: 10.1007/s00431-003-1196-9

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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