Hypoxanthine guanine phosphoribosyltransferase partial deficiency

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Synonyms: HPRT deficiency, grade I | HPRT partial deficiency | HPRT-related gout | HPRT-related hyperuricemia | HPRT1 partial deficiency | Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency | Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I | Kelley-Seegmiller syndrome

Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term) a hereditary disorder of purine metabolism and is associated with uric acid overproduction (UAO) leading to urolithiasis and early-onset gout.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hypoxanthine guanine phosphoribosyltransferase partial deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

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Clinical Trials

For a list of clinical trials in this disease area, please click here.