Glycosylphosphatidylinositol deficiency

A rare autosomal recessive disorder caused by mutation in the PIGM gene. Affected individuals present with seizures beginning in early childhood, hepatic and portal vein THROMBOSIS; SPLENOMEGALY, and decreased expression of GPI-LINKED PROTEINS. OMIM: 610293

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Seizures (Absence Seizure)
2.	Intellectual Disability (Idiocy)
3.	Drug Resistant Epilepsy

Experts

1.	Murakami, Yoshiko: 3 articles (06/2021 - 02/2012)
2.	Kinoshita, Taroh: 2 articles (12/2016 - 02/2012)
3.	Aledo-Serrano, Angel: 1 article (01/2022)
4.	Bayat, Allan: 1 article (01/2022)
5.	Boßelmann, Christian: 1 article (01/2022)
6.	Gardella, Elena: 1 article (01/2022)
7.	Gil-Nagel, Antonio: 1 article (01/2022)
8.	Korff, Christian M: 1 article (01/2022)
9.	Lund, Allan M: 1 article (01/2022)
10.	Møller, Rikke S: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycosylphosphatidylinositol deficiency:

1.	Pyridoxine (Pyridoxin)FDA LinkGeneric 06/01/2021 - "High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency." 01/01/2022 - "Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study."
2.	Immunoglobulin D (IgD)IBA 01/01/2020 - "Defects in the biosynthesis of GPI anchors in humans lead to inherited glycosylphosphatidylinositol deficiency (IGD). " 01/01/2021 - "Patients carrying a mutation of the PIGA gene usually suffer from inherited glycosylphosphatidylinositol deficiency (IGD) with intractable epilepsy and intellectual developmental disorder. "
3.	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/01/2016 - "Patients might therefore be missed when relying on traditional flow cytometry of glycosylphosphatidylinositol-anchored proteins only and we suggest that glycosylphosphatidylinositol-deficiency should be considered even with patients not showing the typical clinical phenotypes. "
4.	Proteins (Proteins, Gene)FDA Link 12/01/2016 - "Patients might therefore be missed when relying on traditional flow cytometry of glycosylphosphatidylinositol-anchored proteins only and we suggest that glycosylphosphatidylinositol-deficiency should be considered even with patients not showing the typical clinical phenotypes. "
5.	Kainic Acid (Kainate)IBA 01/01/2021 - "Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models."
6.	Alkaline PhosphataseIBA 02/24/2012 - "Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome."