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Kelley-Seegmiller syndrome (KSS) is an X-linked recessive disease, causing partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT or HGPRT). KSS was first described in 1967 by Kelley, Rosenbloom, Henderson, and Seegmiller (Kelley et al. 1967; Torres and Puig 2007). KSS represents approximately 15% of patients with HPRT deficiency and is often misdiagnosed as Lesch Nyhan syndrome (LNS) with a prevalence of 1/380,000 live births in Canada (Saigal et al. 2006).

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Kelley-Seegmiller Syndrome

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Olaniyan T. Olugbemi,
  • Ayobami Dare,
  • Adetunji O. Charles,
  • Okotie E. Gloria

摘要

Kelley-Seegmiller syndrome (KSS) is an X-linked recessive disease, causing partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT or HGPRT). KSS was first described in 1967 by Kelley, Rosenbloom, Henderson, and Seegmiller (Kelley et al. 1967; Torres and Puig 2007). KSS represents approximately 15% of patients with HPRT deficiency and is often misdiagnosed as Lesch Nyhan syndrome (LNS) with a prevalence of 1/380,000 live births in Canada (Saigal et al. 2006).