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Article

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

Pediatric neurology - 1 Aug 2014

D'Aco Kristin E, Bearden David, Watkins David, Hyland Keith, Rosenblatt David S, Ficicioglu Can

Abstract excerpt

BACKGROUND: 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of the folate-recycling pathway that affects the remethylation of homocysteine to methionine. The clinical presentation of MTHFR deficiency is highly variable ranging from early neurological deterioration and death in infancy to a mild thrombophilia in adults. PATIENT AND METHODS: We describe an adolescent girl with a...

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Source

Identifiers

PMID: 25079578
DOI: 10.1016/j.pediatrneurol.2014.04.005

Genes

MTHFR

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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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