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Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases.

Clinical neurology and neurosurgery - 1 Apr 2022

Vafaee-Shahi Mohammad, Amirkashani Davoud, Ashrafi Mahmoud Reza, Tahernia Leila, Riahi Aina

Abstract excerpt

This is a case report of Methenyl Tetrahydrofolate synthetase deficiency (MTHFS deficiency) characterized by global developmental delay, cerebral hypomyelination, severe spastic tonicity in extremities, and microcephaly. Mutation in the MTHFS gene was reported in the Whole Exome Sequencing (WES) and confirmed with Sanger sequencing of parents. It is of great significance to report since it would be the first case...

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Identifiers

PMID: 35219051
DOI: 10.1016/j.clineuro.2022.107153

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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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