Families

There is a group of cell surface proteins, called glycosylphosphatidylinositol (GPI) anchored proteins (GPI-APs), which are attached to the cell membrane via GPI anchor and play various important roles especially in neurological development. PGAP3 deficiency is a rare genetic disease with autosomal recessive inheritance characterized by intellectual disability, developmental delay, muscular hypotonia, hyperphosphatasia and epilepsy. It is caused by germline mutations in the PGAP3 gene which is important for maturation of GPI-APs. Mutations in PGAP3 lead to abnormal structure of GPI-APs. The prevalence of PGAP3 deficiency is unknown as it is recently recognized disease, but there have been over 40 patients reported.