Partial HPRT deficiency (Kelley-Seegmiller syndrome).

Abstract

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.

• Authors: Renu Saigal, A Chakraborty, R N Yadav, R K Prashant
• Journal: The Journal of the Association of Physicians of India (J Assoc Physicians India) Vol. 54 Pg. 49-52 (Jan 2006) ISSN: 0004-5772 [Print] India
• PMID: 16649740 (Publication Type: Case Reports, Journal Article)

Chemical References

• Purines
• Hypoxanthine Phosphoribosyltransferase

Topics

• Adult
• Arthritis, Gouty (diagnosis, enzymology)
• Binding Sites
• Erythrocytes (enzymology)
• Humans
• Hyperuricemia (enzymology)
• Hypoxanthine Phosphoribosyltransferase (deficiency, genetics)
• Lymphocytes (enzymology)
• Male
• Metabolism, Inborn Errors (diagnosis, enzymology)
• Mutation
• Purines (metabolism)
• Syndrome