Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome [PDF]
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
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Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report [PDF]
Objectives Lesch-Nyhan syndrome is a rare inherited disorder associated with self-harming behaviors, delayed mental and motor development, and disturbances such as dysarthria, choreoathetosis, and spasticity.
Soodeh Tahmasbi +3 more
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Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome [PDF]
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 +2 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]
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
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Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report [PDF]
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
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Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing [PDF]
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 +2 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]
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
An unanticipated difficult airway in Lesch-Nyhan syndrome
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 +2 more sources
Self-injurious behavior in a young child with lesch-nyhan syndrome
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
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A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients [PDF]
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
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