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Article

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

Journal of medical genetics - 1 Sept 2011

Watkins David, Schwartzentruber Jeremy A, Ganesh Jaya, Orange Jordan S, Kaplan Bernard S, Nunez Laura Dempsey, Majewski Jacek, Rosenblatt David S

Abstract excerpt

OBJECTIVE: An infant was investigated because of megaloblastic anaemia, atypical hemolytic uraemic syndrome, severe combined immune deficiency, elevated blood levels of homocysteine and methylmalonic acid, and a selective decreased synthesis of methylcobalamin in cultured fibroblasts. METHODS: Exome sequencing was performed on patient genomic DNA. RESULTS: Two mutations were identified in the MTHFD1 gene, which...

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Share to Amino Acid Metabolism, Inborn Errors
Share to Anemia, Megaloblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Folic Acid

Share to Hyperhomocysteinemia

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Share to Methylenetetrahydrofolate Dehydrogenase (NADP)

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Source

Identifiers

PMID: 21813566
DOI: 10.1136/jmedgenet-2011-100286

Genes

MTHFD1

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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