The mutations in PCYT2produce a protein that is absent or does not work well. This protein is an enzyme called CTP: phosphoethanolamine cytidyltransferase, and participates in phosphoethanolamine (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