For Families

What is PI4KA-related disorder? It is a syndrome that presents in early-life with a variable range of symptoms, primarily neurologic dysfunction, gastrointestinal manifestations, and immunodeficiency. Errors in the PI4KA were only recently identified as a cause of disease and it is still unclear how many individuals are affected.

PI4KA-related disorder arises when an individual has inherited two faulty copies of the PI4KA gene leading to the absence of a fully functional ‘phosphatidylinositol 4-kinase alpha’ enzyme. The symptoms experienced by patients are caused by inability of this enzyme to fulfill its role within the body.

While to date a limited number of individuals have been described with PI4KA-related disorder, many more will likely be diagnosed with the condition in the future. Identifying more patient will enable us to learn more about this rare, multi-system condition. We aim to learn as much as possible about this disorder and gather together information, resources, and a network for families affected.