Red Blood Cells from Individuals with Lesch–Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency [PDF]
Antioxidants, 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).
Julie A. Reisz +5 more
doaj +5 more sources
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.
Aliaa Abdelmoniem Bedeir Eita
doaj +5 more sources
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report [PDF]
BMC Pediatrics, 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).
Lisa B. E. Shields +2 more
doaj +5 more sources
Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome. [PDF]
Cureus, 2023 Deep brain stimulation (DBS) targeting various locations within the globus pallidus internus (GPi) is emerging as a therapeutic option for patients with medically resistant Lesch-Nyhan syndrome.
Baird-Daniel E +4 more
europepmc +4 more sources
Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report. [PDF]
Cureus, 2022 Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase.
Ferrão J +3 more
europepmc +4 more sources
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome [PDF]
JIMD Reports, 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.
Mandeep Rana +3 more
doaj +3 more sources
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing [PDF]
Molecular Therapy: 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).
Gayoung Jang +8 more
doaj +3 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]
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 +3 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 +3 more sources
An unanticipated difficult airway in Lesch-Nyhan syndrome
Journal of Anaesthesiology Clinical Pharmacology, 2012 An 11-year-old boy with Lesch-Nyhan syndrome presented to the emergency for fixation of a fractured femur. During induction of general anesthesia, unexpected difficult intubation was encountered with a 6.5-mm ID endotracheal tube and successively smaller
Rashmi Salhotra +5 more
doaj +3 more sources