Severe phosphoribosylpyrophosphate synthetase superactivity

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare inherited metabolic disorder that causes the body to produce too much uric acid. The condition is caused by an overactive form of the enzyme PRPP synthetase, which plays a key role in making purines — the building blocks of DNA and RNA. When this enzyme works too hard, the body creates excess purines, which are then broken down into uric acid. This buildup of uric acid can cause serious problems throughout the body, especially in the kidneys and nervous system. In the severe form of this disease, symptoms typically begin in infancy or early childhood and can include kidney stones, kidney failure, gout (painful joint swelling), developmental delay, intellectual disability, hearing loss, and low muscle tone (hypotonia). Some children may also experience seizures and difficulty with movement. The neurological problems in the severe form set it apart from the milder version of PRPP synthetase superactivity, which mainly causes gout and kidney stones in adulthood. Treatment focuses on lowering uric acid levels in the body, primarily using a medication called allopurinol. While this drug can help prevent kidney damage and gout attacks, it does not reverse the neurological problems that may already be present. Early diagnosis and treatment are important to protect kidney function and reduce complications. Supportive therapies such as physical therapy, hearing aids, and special education services may also be needed depending on the child's symptoms.

Bring these to your next appointment

• Q1.How severe is my child's condition compared to other cases, and what symptoms should I expect over time?,What is the current uric acid level, and is the allopurinol dose adequate to control it?,How often should kidney function and hearing be tested?,Are there any clinical trials or new treatments being studied for this condition?,What therapies (physical, speech, occupational) would benefit my child the most right now?,Should other family members be tested, especially females who might be carriers?,What dietary changes should we make, and should we see a dietitian?

Common questions about Severe phosphoribosylpyrophosphate synthetase superactivity

Related conditions

Other rare diseases commonly researched alongside Severe phosphoribosylpyrophosphate synthetase superactivity.

• Adenine phosphoribosyltransferase deficiency→
• Hereditary xanthinuria→
• Lesch-Nyhan syndrome→