About Inherited GPI deficiency (IGD)

IGD is a recently identified recessive hereditary disease associated with intellectual disability and developmental delay. Other symptoms include epilepsy, coarse facial features, and multiple organ anomalies. IGD is a group of disorders caused by mutations in genes that are involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors of cell surface proteins. Because the neurological symptoms are often progressive and pyridoxine (non-phosphorylated vitamin B6) treatment is effective for the seizures of some patients, diagnosis at an early stage is important. The presence of hyperphosphatasia is strongly diagnostic as it is observed in some IGD patients. Flow cytometric analysis of GPI-anchored proteins on granulocytes is also useful for detecting IGD.

General Information

2015.10.15 New
“Medical guideline of Inherited GPI deficiency 2015” has been approved by the Japanese Society of Child Neurology.

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