Missense and nonsense variants have been reported in patients with PCYT2-related disorders. Most of them affect the second CTP catalytic domain.
Pathophysiologic mechanisms
The PCYT2gene encodes CTP: phosphoetanolamine cytidyltransferase, the limiting enzyme in phosphoetanolamine (PE) biosynthesis. PE is a glycerophospholipid that makes up the eukaryotic cell membranes and it is particularly enriched in the brain. Therefore it is an example of the involvement of complex lipid metabolism in the physiopathology of hereditary spastic paraparesis.
PCYT2