Resources & Support

Read in depth about PI4KA-related disorder in the Gene Reviews article:

PI4KA-Related Disorder – GeneReviews® – NCBI Bookshelf (nih.gov)

• Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy by Verdura et al. (2021) presented ten patients with a broad spectrum of neurological and developmental profiles who shared mutations in the PI4KA gene. The researchers showed that there was less of the PI4KA enzyme active in the patient cells and blood.
• Biallelic PI4KA variants cause neurological, intestinal and immunological disease by Salter et al. (2021) presented a further 12 cases of PI4KA-related disorder in four Amish families with the addition of intestinal and immunological symptoms to the disease profile. This study also explored the effect of different PI4KA variants on the molecular structure of the enzyme.
• Read more about our research here

• Beacon for Rare Diseases is a UK-based non-profile organisation with the mission of building a united rare disease community
• Unique is aimed at supporting those affected by rare diseases that causing learning disabilities or developmental delay and raising awareness in the community
• The National Organization of Rare Disorders (NORD) is a US-based organization advocating for patients and families affected by rare diseases