Description Kelley-Seegmiller syndrome (partial HPRT deficiency manifesting as a gout-urolithiasis syndrome) in a patient of 15 years old

From: 18th Pediatric Rheumatology European Society (PReS) Congress Bruges, Belgium 14-18 September 2011 Author details 1-Children's Hospital No.38 Federal Medical Biological Agency of Russia, Moscow, RussiaEMPTY 2-Research Institute of Rheumatology, Russian Academy of Medical Sciences, Moscow, RussiaEMPTY Supplemental Information: Meeting abstracts - A single PDF containing all abstracts in this supplement is available at http://www.biomedcentral.com/content/files/pdf/1546-0096-9-S1-full.pdf.EMPTY Background Partial deficiency of the enzyme hypoxanthine-guanine phosphoribosil transferase syndrome (Kelley-Seegmiller) is a rare genetic disorder manifesting as a gout-urolithiasis.