Congenital GPI deficiency presenting with severe asphyxia

Abstract

 Congenital glycosylphosphatidylinositol（GPI）deficiency is caused by mutations in genes responsible for synthesizing GPI anchors that bind various proteins to the cell membrane, resulting in intellectual disability, motor retardation, and epilepsy. This rare disease affects only about 50 patients in Japan and poses diagnostic challenges, particularly in cases without a family history of GPI. The primary symptoms include intellectual disability and motor developmental disorder without perinatal abnormalities. Herein, we report on a patient with congenital GPI deficiency who was transferred to the neonatal intensive care unit due to severe asphyxia.