Analysis for the molecular mechanism of Inheited GPI Deficiency

点击翻译按钮获取中文摘要

Glycosylphosphatidylinositol (GPI) is a glycolipid, which anchors 150 proteins to the cell surface. There are at least 27 genes involved in the biosynthesis and transport of GPI-anchored proteins (GPI-APs). Many inherited GPI deficiencies (IGDs) have been found using whole-exome sequencing. Patients with IGD have only a partial deficiency because complete GPI deficiency causes embryonic death. The major symptoms of IGDs include intellctual disability, epilepsy, and multiple organ anomalies. These symptoms vary in severity depending upon the degree of the defect and/or position in the pathway of the affected gene. Hyperphosphatasia is observed in some patients with IGDs. The possibility of IGD should be considered in patients with seizures and intellctual disability. The presence of hyperphosphatasia is strong evidence of IGD. Flow cytometric analysis of GPI-APs on granulocytes is useful for the detection of IGD. It should be noted that Vitamin B6 is sometimes effective for seizures.