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Article

Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family.

American journal of medical genetics - 24 Apr 2000

Tonetti C, Burtscher A, Bories D, Tulliez M, Zittoun J

Abstract excerpt

A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found associated with low folate levels in serum and red cells, especially undetectable methyltetrahydrofolate in red cells....

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Identifiers

PMID: 10767000
DOI: 10.1002/(sici)1096-8628(20000424)91:5<363::aid-ajmg9>3.0.co;2-x

Genes

MTHFR

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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