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.
- 2026.3.26 New
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Announcement of the 10th Patient Meeting
The 10th Patient Meeting will be held in a hybrid format (in-person and online) on Sunday, March 21, 2026, from 1:00 PM to 3:30 PM. The in-person venue will be the Conference Room on the 6th floor of the Integrated Clinical Building (New Ward), Osaka University Hospital. We look forward to welcoming many families.
Our patient association website is now available.
- 2025.2.26
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Announcement of the 9th Patient Meeting
The 9th Patient Meeting will be held in a hybrid format (in-person and online) on Sunday, March 2, 2025, from 1:00 PM to 3:30 PM. Starting with this meeting, the Inherited GPI Deficiency Patient Association has been officially established. We look forward to welcoming many families.
- 2024.2.10
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Announcement of the 8th Patient Meeting
The 8th Patient Meeting will be held in a hybrid format (in-person and online) on Sunday, March 3, 2024, from 1:00 PM to 3:30 PM. The in-person venue will be the 5th floor of the Oncology Center Building, Osaka University Hospital. We look forward to welcoming many families.
- 2023.1.27
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Announcement of the 7th Patient Meeting
The 7th Patient Meeting will be held online on Saturday, February 18, 2023, from 2:00 PM to 4:00 PM. We look forward to welcoming many families.
- 2022.1.25
- The 6th meeting of IGD patients’ association will be held.
On the 29th, January, 2022 on line
- 2025.2.25 New
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Granulocyte CD16 testing (flow cytometry) has been approved for national health insurance coverage in Japan as a screening test for “inherited GPI deficiency.”
Click here for more information.
- 2022.4.01
- Gene panel test for 27 GPI biosynthesis genes is covered by insurance
- 2018.6.21
- “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.
