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
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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
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New personalized genetic mouse model of Lesch-Nyhan syndrome for pharmacology and gene therapy [PDF]
Research Results in Pharmacology, 2018 Introduction: Lesch-Nyhan syndrome is a clinical and laboratory disorder caused by X-linked disruption of the purine metabolism. The deletion in the HPRT1 gene leads to the disappearance of valine in the eighth position of the protein amino acid sequence.
Vladislav Kalmykov +8 more
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Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. [PDF]
Medicine (Baltimore), 2020 Rationale: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances. Inhalational anesthesia has been frequently used in LNS patients undergoing surgery.
Lee J, Jung SM, Jeon S.
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Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. [PDF]
Int J Clin Pediatr Dent, 2016 Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers,
Jathar P, Panse AM, Jathar M, Gawali PN.
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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.
Kale A, Shah K, Hallikerimath S
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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
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Lesch-nyhan syndrome in an Indian child
Indian Journal of Dermatology, 2015 Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation.
Priyanka Chandekar +3 more
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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
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The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]
Maedica (Bucur), 2023 Introduction: Lesch-Nyhan syndrome (LNS) is a rare genetic disease secondary to a HPRT1 mutation on chromosome X. It is characterized by dystonia, developmental delay, hyperuricemia and self-harming behaviours. The HPRT enzyme is implicated in the purine
Roza E, Baloi AD, Plaiasu V, Teleanu RI.
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