Living with Hypoxanthine-guanine phosphoribosyltransferase deficiency
An inherited metabolism condition with too much uric acid and a range of nervous system effects.
Understanding Hypoxanthine-guanine phosphoribosyltransferase deficiency
Along with making too much uric acid, people can have a range of nervous system (neurological) effects. How strong these are depends on how much of the HPRT enzyme is lacking. It can appear at any time in life.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary points to these:
- Too much uric acid
- Neurological symptoms that range from mild to more severe
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes cause this condition. It is inherited in an X-linked pattern, which means the gene involved is on the X chromosome.
Also known as: deficiency of guanine phosphoribosyltransferase; deficiency of hypoxanthine phosphoribosyltransferase; deficiency of hypoxanthine-guanine phosphoribosyltransferase; deficiency of imp pyrophosphorylase; hprt deficiency; hprt1 deficiency
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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Perspectives from people navigating life with Hypoxanthine-guanine phosphoribosyltransferase deficiency.
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