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Article

Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.

British journal of haematology - 1 Nov 2002

Tonetti Carole, Ruivard Marc, Rieu Virginie, Zittoun Jacqueline, Giraudier Stephane

Abstract excerpt

Deficiency in methylenetetrahydrofolate reductase (MTHFR), the enzyme involved in the remethylation of homocysteine to methionine using methyltetrahydrofolate as cofactor, induces hyperhomocysteinaemia, homocysteinuria, hypomethioninaemia and low methylfolate levels. Diagnosis usually occurs during infancy because of various neurological abnormalities. We report MTHFR deficiency diagnosed in an adult woman after...

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Share to Contraceptives, Oral, Hormonal
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Source

Identifiers

PMID: 12406076
DOI: 10.1046/j.1365-2141.2002.03876.x

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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