Parents

PIGA deficiency is a rare genetic disease characterized by intellectual disability, developmental delay, and epilepsy, sometimes with liver, renal, cardiac involvement. It is caused by germline mutations in the PIGA gene which is important for glycosylphosphatidylinositol (GPI) anchor biosynthesis. Cell surface protein can be attached to the cell membrane via GPI anchor, and so mutations in PIGA lead to the decreased levels of GPI-anchored proteins. GPI-anchored proteins play vital roles in numerous biological processes, such as neuronal development. The prevalence of PIGA deficiency is unknown as it is recently recognized disease, but there have been over 25 patients reported.