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Updated: Jul 13, 2026

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Published on: April 3, 2026
[Kelley-Seegmiller syndrome]
1Department für Kinderheilkunde, Medizinische Universität Innsbruck, Austria. juergen.brunner@uklibk.ac.at
Background:
Hypoxanthinguanin-phosphoribosyltransferase (HPRT) deficiency, an x-linked inherited disease can cause two presentations: A complete deficiency (Lesch-Nyhan syndrome) accompanies with grave renal and neurological symptoms. A second form is the partial enzyme deficiency (Kelley-Seegmiller syndrome).
Patient:
We present a thirteen year old boy with relapsing hyperuricemia and hypercreatininemia. In the framework of postoperative renal insufficiency the diagnose of a Kelley-Seegmiller syndrome was elaborated.
Result:
About 25% of patients with Kelley-Seegmiller syndrome present mild neurological symptoms but never with self-destructive behavior. Pathophysiological an increased de novo purinsynthesis is present. Therefore, it comes to an overproduction of urine acid. Urolithiasis is one clinical manifestation.
Conclusion:
Relapsing urolithiasis and renal insufficiency has to be worked up. In the differential diagnosis a disorder of purine metabolism has to be discussed.
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