myelination of the internal capsules, relative under-myelination of the remainder of the subcortical white matter, and a thin corpus callosum. From an MTHFS deficiency case report by Romero et al., 2019.<unk>  (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene, which encodes the enzyme<unk> ,10-Methenyltetrahydrofolate<unk> . 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.
5,10-methenyltetrahydrofolate synthetase deficiency
Methylenetetrahydrofolate reductase deficiency
Adenine phosphoribosyltransferase deficiency
Dihydrofolate reductase deficiency
Adenosine deaminase 2 deficiency
Guanidinoacetate methyltransferase deficiency
Adenosine deaminase deficiency
Ribose-5-phosphate isomerase deficiency