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.

News

2018.7.02 New
The 4th meeting of IGD patients’ association will held.
On the 8th, December, 2018 at the meeting room of Osaka University Hospital 14F
2017.11.20
The 3 rd meeting of IGD patients’ association was held.
On the 18 th, November, 2017 at the meeting room ABC of CoMIT building 4F in Osaka University
2016.11.02
The 2nd meeting of IGD patients’ association was held.
On the 29 th, October, 2016 at the meeting room of the Oncology center in Osaka University
2015.10.15
The first meeting of IGD patients’ association was held.
On the 3 rd, October, 2015 at the meeting room of Osaka University Hospital 14F

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General Information

2018.6.21 New
“Medical guideline of Inherited GPI deficiency 2018” has been approved by the Japanese Society of Child Neurology.
2018.4.01
“Inherited GPI deficiency” has been registered as the specified chronic diseases in childhood by the Ministry of Health, Labour and Welfare
2017.4.01
“Inherited GPI deficiency” has been registered as the Intractable Diseases by the Ministry of Health, Labour and Welfare
2015.10.15
“Medical guideline of Inherited GPI deficiency 2015” has been approved by the Japanese Society of Child Neurology.

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