Living with Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
The mildest form of an inherited metabolism condition causing too much uric acid, with kidney stones and early gout.
Understanding Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
The body makes too much uric acid, which can lead to kidney stones (urolithiasis) and gout at an early age. Some people also have movement and thinking differences. GARD lists the onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Uric acid overproduction
- Kidney stones
- Early-onset gout
- Dystonia (muscle contractions)
- Intellectual disability
- Kidney problems (nephropathy)
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 blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in HPRT1 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
- Blood and bone marrow specialists (hematologists); 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 HPRT1 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: gout, hprt-related; gout, hprt1-related; hprt deficiency, grade i; hprt deficiency, partial; hprt partial deficiency; hprt-related gout
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 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
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