In recent years, researchers worldwide have discovered mutations on the UGDH gene that are causing profound developmental delay and other symptoms.
This website is maintained by the parents of an affected child. We are taking steps to start a foundation and build an accurate and informative website with the goal of advancing research for treatment.
If you are a parent of someone diagnosed with a UGDH-related disorder, please let us know by using the below contact form. Identifying and connecting families can be important for research.
If you are interested in funding research, please let us know using the below contact form. We will update you when the appropriate legal and medical engines are in place.
Jacob and Rebekah Hall
Harpers Ferry, West Virginia
For further reading: Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy, Nature Communications, 30 January 2020