LESCH – NYHAN SYNDROME (LNS) - THE REVIEW

Daria Madycka; Weronika Skrzypek; Małgorzata Słaboń; Karol Stępniak; Wiktor Telega; Kinga Wnuczek; Joanna Wrona; Aleksandra Kaźmierczyk; Jędrzej Kęsik

doi:10.31435/ijitss.3(47).2025.3862

Daria Madycka University Clinical Hospital No. 1 in Lublin, ul. Staszica 16, 20-081 Lublin, Poland https://orcid.org/0000-0001-8682-1229
Weronika Skrzypek 1st Military Clinical Hospital with the Outpatient Clinic, al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0004-3353-1390
Małgorzata Słaboń 1st Military Clinical Hospital with the Outpatient Clinic, al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0000-0003-1627-8878
Karol Stępniak 1st Military Clinical Hospital with the Outpatient Clinic, al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0000-0002-8134-7967
Wiktor Telega 1st Military Clinical Hospital with the Outpatient Clinic, al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0007-9805-243X
Kinga Wnuczek 4th Clinical University Hospital in Lublin, ul. Kazimierza Jaczewskiego 8, 20-954 Lublin, Poland https://orcid.org/0009-0001-6687-075X
Joanna Wrona 4th Clinical University Hospital in Lublin, ul. Kazimierza Jaczewskiego 8, 20-954 Lublin, Poland https://orcid.org/0009-0004-9267-1529
Aleksandra Kaźmierczyk 1st Military Clinical Hospital with the Outpatient Clinic, al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0007-7283-2518
Jędrzej Kęsik 1st Military Clinical Hospital with the Outpatient Clinic, al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0000-0001-8317-0213

DOI: https://doi.org/10.31435/ijitss.3(47).2025.3862

Keywords: Lesch – Nyhan Syndrome, HPRT1, Purine Salvage Pathway, Hyperuricemia

Abstract

Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in the HPRT1 gene, which encodes an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-harm. Although the disease was described in 1964, it remains unclear how abnormalities in hypoxanthine and guanine recycling can lead to such significant neurological deficits. Several studies have proposed different hypotheses regarding the etiology of the disease and various treatment options have been proposed, but none have led to a satisfactory explanation of the pathophysiology of the disease. New technologies such as sequencing, optogenetics, genome editing, and induced pluripotent stem cells may provide a unique opportunity to map the precise sequential pathways from genotype to disease phenotype.

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