If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in the PAPSS1 gene were identified in a female, age 6 with global developmental delay, severe motor impairment, and involuntary muscle contractions (dystonia) (read full description).
Nov 01, 2018
3'-phosphoadenosine 5'-phosphosulfate synthase 1
The PAPSS1 gene codes for an enzyme that acts as a sulfate donor (Xu et al. 2000).
Changes in the PAPSS1 gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!