Living with Phosphoribosylpyrophosphate synthetase superactivity
An inherited X-linked condition in which the body makes too much uric acid, causing kidney stones and gout, and sometimes hearing and nerve problems.
Understanding Phosphoribosylpyrophosphate synthetase superactivity
Extra uric acid can cause gout (arthritis from uric acid crystals in the joints) and kidney or bladder stones. A stone is often the first symptom. There is a severe form that starts in infancy or early childhood and a milder form that starts in late adolescence or early adulthood. People with the severe form may also have hearing loss, low muscle tone, poor coordination, and developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gout and kidney or bladder stones
- Hearing loss from the inner ear
- Low muscle tone (hypotonia)
- Problems with balance and coordination (ataxia)
- Intellectual disability
- Kidney problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in PRPS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PRPS1 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: gout, prps-related, x-linked recessive; phosphoribosyl pyrophosphate synthetase superactivity; phosphoribosylpyrophosphate synthetase superactivity, x-linked recessive; prpp synthetase superactivity; prps1 superactivity
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Phosphoribosylpyrophosphate synthetase superactivity.
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