- Poster presentation
- Open Access
Description Kelley-Seegmiller syndrome (partial HPRT deficiency manifesting as a gout-urolithiasis syndrome) in a patient of 15 years old
© Rodionovskaya et al; licensee BioMed Central Ltd. 2011
- Published: 14 September 2011
- Uric Acid
- Uric Acid Level
Partial deficiency of the enzyme hypoxanthine-guanine phosphoribosil transferase syndrome (Kelley-Seegmiller) is a rare genetic disorder manifesting as a gout-urolithiasis.
We observed a boy 15 years old, with syndrome Kelley-Seegmiller.
Chronic urate tubulointerstitial nephritis and nephrocalcinosis affects the prognosis of Kelley-Seegmiller Syndrome.
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