Lesch-Nyhan syndrome: evaluation of a modified bite device to prevent bite injuries [PDF]
Applied Sciences, 2020 Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purinemetabolismdisorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Bossu M. +4 more
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Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report. [PDF]
BMC Oral Health, 2022 Background Riga–Fede disease is a rare begnin disorder of the oral tissues, it can be associated with congenital anomalies and neurological disturbances.
Eita AAB.
europepmc +5 more sources
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]
Front Genet, 2022 Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS).
AlBakheet A +5 more
europepmc +5 more sources
Lesch-Nyhan syndrome: A case report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008 Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. It is a rare anomaly consisting of deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and accumulation of
Kale A, Shah K, Hallikerimath S
doaj +5 more sources
New personalized genetic mouse model of Lesch-Nyhan syndrome for pharmacology and gene therapy [PDF]
Research Results in Pharmacology, 2018 In the current study, we present the results of the generation of a genetically modified mouse strain carrying a deletion in the HPRT1 gene. These mice can be effectively used for the preclinical testing of new drugs aimed at the treatment of Lesch-Nyhan
Kalmykov, V. A. +4 more
core +7 more sources
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. [PDF]
JIMD Rep, 2021 Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation.
Rana M, Cuttin K, Berry GT, Torres A.
europepmc +3 more sources
Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency. [PDF]
Antioxidants (Basel), 2023 Lesch–Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Reisz JA +5 more
europepmc +3 more sources
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing. [PDF]
Mol Ther Nucleic Acids, 2023 Lesch-Nyhan syndrome (LNS) is inherited as an X-linked recessive genetic disorder caused by mutations in hypoxanthine-guanine phosphoribosyl transferase 1 (HPRT1).
Jang G +8 more
europepmc +3 more sources
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. [PDF]
Diagnostics (Basel)Background: 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.
Fang HH +9 more
europepmc +3 more sources
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. [PDF]
BMC Pediatr, 2018 Background Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Shields LBE, Peppas DS, Rosenberg E.
europepmc +3 more sources