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Article

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Jul 2026

Kılıç Mustafa, İcil Suzan, Sayar Esra, Doğan Sevgi, Gökçe-Altaş Gizem, Güler Elif, Sezer Abdullah

Abstract excerpt

OBJECTIVES: 5,10-Methenyltetrahydrofolate synthetase (MTHFS) deficiency is an ultra-rare autosomal recessive inborn error of folate metabolism caused by biallelic pathogenic variants in the MTHFS gene and associated with a severe neurodevelopmental disorder. METHODS: Patients with molecularly confirmed MTHFS deficiency were identified through a comprehensive search of the PubMed database. A total of 12 patients...

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Identifiers

PMID: 42188980
DOI: 10.1515/jpem-2026-0073

Genes

MTHFS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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