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Article

MTHFD1 Deficiency in Two Unrelated Children: Highlights on Phenotypic Spectrum and Response to Folic Acid Therapy.

Journal of pediatric hematology/oncology - 1 Aug 2026

Altammar Fajer, Elsayed Haidy, Elshinawy Mohamed, Al-Herz Waleed

Abstract excerpt

BACKGROUND AND AIMS: Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency is a rare inborn error of immunity (IEI) involving defects in folate metabolism. It can present with combined immunodeficiency and variable phenotypic features, including recurrent bacterial infections, megaloblastic anemia, and failure to thrive. METHODS: We describe 2 unrelated Kuwaiti children with MTHFD1 deficiency caused by a...

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Anemia, Megaloblastic
Child
Child, Preschool
Folic Acid
Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methylenetetrahydrofolate Dehydrogenase (NADP)

Minor Histocompatibility Antigens

Source

Identifiers

PMID: 42301236
DOI: 10.1097/MPH.0000000000003238

Genes

MTHFD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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