Jamuar Syndrome is a recently discovered rare genetic disorder caused by variants in the UGDH gene. This disorder affects the neurological system and can cause developmental delay, low muscle tone, loss of motor skills, speech impairment, moderate to severe intellectual disability, and seizures. 

There is no cure for this disorder. Patients are treated to relieve their specific symptoms. 

The UGDH Foundation incorporated in West Virginia in 2022 and is pursuing 501(c)(3) status. The board of directors is in the process of developing a medical advisory board and identifying research opportunities for Jamuar Syndrome treatments.  

Connect

If you are a parent of someone diagnosed with Jamuar Syndrome, please contact us. We can put you in touch with a patient family network and talk about how we can accelerate research together. 

If you are a medical or scientific professional interested in UGDH-related disorders or volunteering on our Scientific Advisory Board, we’d love to hear from you!

SUPPORT

At this time, donations can be received at

The UGDH Foundation 
P.O. Box 670
Shepherdstown, WV 25443

The UGDH Foundation is awaiting IRS approval for 501(c)(3) tax exempt status. Once granted, IRS Pub 557 indicates that the effective date of our exemption will be retroactive to our date of incorporation (November 9, 2022). Donations may be tax exempt.

UGDH-Related Disorder, a report for patients and caregivers (National Organization for Rare Disorders)

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy, Nature Communications, 30 January 2020

A missense mutation in the UGDH gene is associated with developmental delay and axial hypotonia, Frontiers in Pediatrics, 27 February 2020