A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients [PDF]
International Journal of Dentistry, 2014 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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Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. [PDF]
Intractable Rare Dis Res, 2017 Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e.
Tewari N +3 more
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Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]
Clin Case RepABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S +4 more
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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 Gupta +3 more
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The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study [PDF]
Eur J NeurolABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Kilmer J +6 more
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Self-mutilation in the Lesch–Nyhan syndrome [PDF]
Neurology, 2005 Over the last few years, this 12-year-old boy had chewed off his lips and tongue, bitten his left arm, and eroded his nose by rubbing it on the floor …
Boby Varkey Maramattom
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Disability, Relational Equality, and the Expressivist Objection. [PDF]
Hastings Cent RepAbstract Proponents of the expressivist objection argue that the use and provision of testing to select against disability in offspring express negative judgments about existing persons with disabilities. But does the expression of such judgments also wrong those persons?
Magnusson E.
europepmc +2 more sources
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR +7 more
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Nonspecific osteomyelitis of the spine (NOS) in a patient with primary gout due to Lesch–Nyhan syndrome (LNS): case description and literature review [PDF]
Гений oртопедии, 2020 Introduction Lesions of the spine due to gout are rare types of seronegative spondyloarthritis. The article provides a review of the literature of primary and secondary types of gouty spondyloaritritis and presents a clinical example of nonspecific ...
Arkadii A. Vishnevskii +1 more
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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
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