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Article

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.

The Biochemical journal - 15 Sept 2004

Schwahn Bernd C, Laryea Maurice D, Chen Zhoutao, Melnyk Stepan, Pogribny Igor, Garrow Timothy, James S Jill, Rozen Rima

Abstract excerpt

MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized in homocysteine remethylation to methionine. A severe deficiency of MTHFR results in hyperhomocysteinaemia and homocystinuria. Betaine supplementation has proven effective in ameliorating the biochemical abnormalities and the clinical course in patients with this deficiency. Mice with a...

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Source

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Identifiers

PMID: 15217352
DOI: 10.1042/BJ20040822
PMCID: PMC1133958

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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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.PMID 15217352Read ↗

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