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Review
. 2016 Nov;7(6):302-311.
doi: 10.1159/000449296. Epub 2016 Sep 24.

Lesch-Nyhan Syndrome: Models, Theories, and Therapies

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Free PMC article
Review

Lesch-Nyhan Syndrome: Models, Theories, and Therapies

Scott Bell et al. Mol Syndromol. .
Free PMC article

Abstract

Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype.

Keywords: Lesch-Nyhan syndrome; Models; Theories; Therapies.

Figures

Fig. 1
Fig. 1
Schematic timeline of important milestones in the study of LNS. Studies relating to the underlying etiology of LNS, the treatment of LNS, and the generation of LNS models are highlighted in blue, red, and green, respectively.

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