5,10-methenyltetrahydrofolate synthetase deficiency
5,10-Methenyltetrahydrofolate synthetase deficiency is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene, which encodes the enzyme 5,10-Methenyltetrahydrofolate synthetase.
The disease starts at birth or in early infancy and presents with microcephaly, short stature, and developmental delay. Patients develop seizures that may be hard to control. Brain imaging shows delayed myelination and hypomyelination.
Mutations of the MTHFS gene disrupt folate metabolism, which is very important for the proper development of the nervous system and myelination of nerve fibers.
The first case report of MTHFS deficiency was published in 2018.[1]
See also
- Cerebral folate deficiency - loss of myelination and seizures in a rare folate metabolism syndrome
References
- Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT (September 2018). "5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination". Molecular Genetics and Metabolism. 125 (1–2): 118–126. doi:10.1016/j.ymgme.2018.06.006. PMC 6557438. PMID 30031689.
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