Overview
Hypoxanthine guanine phosphoribosyltransferase (HPRT) partial deficiency, also known as Kelley-Seegmiller syndrome, is a rare inherited metabolic disorder caused by a partial loss of function of the HPRT1 enzyme. This enzyme plays a key role in recycling purines — building blocks that the body uses to make DNA and energy molecules. When this enzyme does not work well enough, uric acid builds up in the blood and tissues, leading to a condition called hyperuricemia. The most common problems caused by this buildup include painful gout attacks in the joints, kidney stones, and sometimes kidney damage over time. Unlike the severe form of HPRT deficiency (called Lesch-Nyhan syndrome), people with the partial form usually do not have the severe neurological problems or self-injurious behavior seen in that condition. However, some people with partial HPRT deficiency may have mild neurological symptoms such as poor coordination or muscle stiffness. Treatment focuses on lowering uric acid levels using medications like allopurinol or febuxostat, staying well hydrated, and managing gout flares. With proper treatment, many people can live relatively normal lives, though ongoing monitoring of kidney function and uric acid levels is important. Early diagnosis and treatment are key to preventing long-term joint and kidney damage.
Also known as:
Key symptoms:
Painful, swollen joints (gout attacks), especially in the big toe, ankles, and kneesKidney stones, which can cause severe back or side painHigh uric acid levels in the bloodUric acid crystals in the urine (sometimes seen as orange or sandy deposits in diapers in young children)Kidney problems or reduced kidney function over timeMild difficulty with coordination or balance in some peopleMuscle stiffness or spasticity in some casesUrinary tract problems related to kidney stonesJoint damage from repeated gout attacks if untreated
Clinical phenotype terms (18)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hypoxanthine guanine phosphoribosyltransferase partial deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Questions for your doctor
Bring these to your next appointment
- Q1.What uric acid level should we be aiming for, and how often should it be checked?,Is allopurinol the right medication for me, and what side effects should I watch for?,How do I know if my kidneys are being affected, and what tests should I have regularly?,Are there dietary changes that will make the biggest difference for my condition?,Could I have any neurological involvement, and should I see a neurologist?,Should my family members — especially male relatives — be tested for this condition?,What should I do if I have a severe gout attack or think I have a kidney stone?
Common questions about Hypoxanthine guanine phosphoribosyltransferase partial deficiency
What is Hypoxanthine guanine phosphoribosyltransferase partial deficiency?
Hypoxanthine guanine phosphoribosyltransferase (HPRT) partial deficiency, also known as Kelley-Seegmiller syndrome, is a rare inherited metabolic disorder caused by a partial loss of function of the HPRT1 enzyme. This enzyme plays a key role in recycling purines — building blocks that the body uses to make DNA and energy molecules. When this enzyme does not work well enough, uric acid builds up in the blood and tissues, leading to a condition called hyperuricemia. The most common problems caused by this buildup include painful gout attacks in the joints, kidney stones, and sometimes kidney da
How is Hypoxanthine guanine phosphoribosyltransferase partial deficiency inherited?
Hypoxanthine guanine phosphoribosyltransferase partial deficiency follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.