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
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
Lingual Dyskinesia as the Presenting Feature of Acquired Demyelinating Syndrome: A Case Report and Review of Differential Diagnoses. [PDF]
J Paediatr Child HealthJournal of Paediatrics and Child Health, Volume 62, Issue 6, Page 1060-1065, June 2026.
Davis B +3 more
europepmc +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
Anaesthetic management of a child with Lesch Nyhan syndrome [PDF]
Indian Journal of Anaesthesia, 2019 Shraya Banerjee +3 more
doaj +2 more sources
Deep brain stimulation for the treatment of paediatric dystonia due to neuroanatomical abnormalities: a systematic review of efficacy and future perspectives [PDF]
BMJ Neurology OpenBackground Paediatric dystonia due to neuroanatomical brain abnormalities causes significant morbidity in affected children. Medical treatments have limited efficacy and deep brain stimulation (DBS) surgery is a potential therapy that may be underused ...
Yasmin Soliman +6 more
doaj +2 more sources
Case of Self-Mutilation –Lesch-Nyhan Syndrome
Journal of College of Medical Sciences-Nepal, 2022 Lesch-Nyhan syndrome involves a congenital error of purine metabolism, due to the absence (or very low levels) of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. The classic clinical phenotype of LNS was first described by Michael Lesch and
Sweta Kumari Gupta +3 more
doaj +1 more source
Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report
Journal of Dental School, 2021 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
doaj +1 more source