PIGA

Professionals

PIGA deficiency is caused by germline mutation in PIGA. PIGA is essential for the first step in GPI anchor biosynthesis. GPI-APs serve critical functions as adhesion molecules, receptors, complement regulators, enzymes and co-receptors in signal transduction pathways. The main clinical features are intellectual disability, developmental delay, epilepsy, and sometimes with multisystem disorder such as liver, renal, and cardiac involvement. The prevalence of PIGA deficiency is unknown as it is recently recognized disease, but there have been over 25 patients reported. The PIGA gene is located on chromosome Xp22.2, and PIGA deficiency is an X-linked recessive disorder.