The Spectrum of HGPRT Deficiency

Abstract

Patients with HGPRT deficiency may be phenotypically classified into two differentiated entities: (a) Lesch-Nyhan syndrome, also named “complete HGPRT deficiency”, characterized by spasticity, choreoathetosis, mental retardation, and self-mutilation behaviour,1 and (b) Kelley-Seegmiller syndrome, also named “partial HGPRT deficiency.”2 Patients with this syndrome could present either mild to severe neurological manifestations including different degrees of spasticity and mental retardation, or no neurological symptoms at all. A differential characteristic between both syndromes is that patients with the Kelley-Seegmiller syndrome do not self-mutilate, although not all patients with the Lesch-Nyhan syndrome exhibit this dramatic manifestation.KeywordsUric AcidMental RetardationEnzyme DefectUric Acid ExcretionSpanish FamilyThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.