Living with Phosphoribosylpyrophosphate synthetase deficiency
An inherited X-linked condition affecting nerves and senses, with hearing loss, weakness, vision problems, and learning difficulties.
Understanding Phosphoribosylpyrophosphate synthetase deficiency
It is caused by changes in the PRPS1 gene on the X chromosome. It is a spectrum that includes Arts syndrome, Charcot-Marie-Tooth neuropathy type X5, and some forms of inherited hearing loss. It most often affects males, though females can be affected. Symptoms range from severe and early to milder and later in life.
Signs & symptoms
Symptoms vary from person to person. GARD says they may include:
- Hearing loss
- Problems with movement or balance
- Muscle weakness
- Nerve damage in the limbs (peripheral neuropathy)
- Learning difficulties
- Vision problems and more infections
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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 on the X chromosome cause this condition, which means it is X-linked.
Also known as: deafness hyperuricemia neurologic ataxia; deficiency of ribose-phosphate pyrophosphokinase
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Phosphoribosylpyrophosphate synthetase deficiency.
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