Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome [PDF]
Frontiers in Genetics, 2023 Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS).
Albandary AlBakheet +5 more
doaj +2 more sources
EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME
Вопросы современной педиатрии, 2014 A rare clinical case of stomatological maintenance of 11-year old boy with Lesch-Nyhan syndrome (primary x-linked hyperuricemia) is demonstrated in the article. In order to decrease trauma risk of oral cavity organs and soft tissues (due to autoagression)
N. V. Tarasova, V. G. Galonskii
doaj +2 more sources
A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients [PDF]
International Journal of Dentistry, 2014 Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme ...
Giulia Ragazzini +4 more
doaj +3 more sources
Self-injurious behavior in a young child with lesch-nyhan syndrome
Indian Journal of Psychological Medicine, 2016 Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available.
Satyakam Mohapatra, Alok Jyoti Sahoo
doaj +2 more sources
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series [PDF]
DiagnosticsBackground: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang +9 more
doaj +2 more sources
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome [PDF]
Orphanet Journal of Rare Diseases, 2007 Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic
Puig Juan G, Torres Rosa J
doaj +2 more sources
Guanine is an inhibitor of c-jun terminal kinases [PDF]
Scientific ReportsThe toxicity of purine bases adenine and guanine is mostly recognized when associated with inborn errors of purine metabolism such as Lesch-Nyhan syndrome, and metabolic diseases with a lifestyle component including gout.
Jessica Treeby +10 more
doaj +2 more sources
Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay [PDF]
Frontiers in GeneticsLesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng +24 more
doaj +2 more sources
Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. [PDF]
PLoS ONE, 2014 Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Ghiabe-Henri Guibinga +2 more
doaj +2 more sources
Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]
J Endourol Case Rep, 2020 Background: Lesch-Nyhan syndrome results from a rare X-linked inborn error of metabolism leading to a total body accumulation of uric acid. Clinical manifestations include self-mutilating behavior, poor muscle control, intellectual disability, gout, and ...
Meagher MF, Bechis SK.
europepmc +2 more sources