PRPS1 deficiency disorder

PRPS1 deficiency disorder is a condition that affects the peripheral nerves. It is caused by changes in the PRPS1 gene, which lead to a decrease or impaired function of the PRPS1 enzyme. This condition can present with a range of symptoms that overlap with other diseases such as Charcot-Marie Tooth syndrome, Arts syndrome, and nonsyndromic hearing loss. People with this condition may experience various nerve-related symptoms. The condition is part of a group of disorders that affect the peripheral nervous system, which is responsible for sending signals between the brain and the rest of the body.

People with PRPS1 deficiency disorder can show symptoms related to peripheral nerve problems. These may include issues similar to those seen in Charcot-Marie Tooth syndrome, Arts syndrome, and problems with hearing. However, specific details on symptom variability and presentation are limited.

This condition is caused by variants in the PRPS1 gene that decrease or impair the function of the PRPS1 enzyme. As a genetic condition, the cause is linked to changes in a specific gene that affect how the enzyme works in the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.