Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein
Sign Up to like & getrecommendations! Published in 2017 at "Nucleosides, Nucleotides and Nucleic Acids"
DOI: 10.1080/15257770.2016.1231319
Abstract: ABSTRACT Lesch–Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of… read more here.
Keywords: hprt1 gene; gene; lesch nyhan; nyhan disease ... See more keywords
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome
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DOI: 10.1097/md.0000000000021847
Abstract: Abstract 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. Characteristic compulsive self-injurious behavior… read more here.
Keywords: patient; propofol anesthesia; nyhan syndrome; propofol ... See more keywords
Editorial: Behavioral phenotypes in developmental neuropsychiatric disorders: disrupted epigenetics, microdeletions, sex chromosome aneuploidies, and gestational alcohol toxicity.
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DOI: 10.1097/yco.0000000000000483
Abstract: DOI:10.1097/YCO.0000000000000483 In his presidential address to the Society of Pediatric Research in 1971, William Nyhan proposed the term ‘behavioral phenotype’ to designate self-injurious behavior that is a characteristic feature of Lesch– Nyhan syndrome. In the… read more here.
Keywords: nyhan syndrome; behavioral phenotypes; deficiency; lesch nyhan ... See more keywords
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report
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DOI: 10.1186/s12887-018-1197-5
Abstract: BackgroundLesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan… read more here.
Keywords: nyhan syndrome; lesch nyhan; case; treated allopurinol ... See more keywords
Congenital anomalies-associated Riga–Fede disease as an early manifestation of Lesch–Nyhan syndrome: rare entities in the same pediatric patient—a case report
Sign Up to like & getrecommendations! Published in 2022 at "BMC Oral Health"
DOI: 10.1186/s12903-022-02060-1
Abstract: Background Riga–Fede disease is a rare begnin disorder of the oral tissues, it can be associated with congenital anomalies and neurological disturbances. Lesch–Nyhan syndrome is a rare X-linked recessive disorder characterized by neurological and behavioral… read more here.
Keywords: fede disease; riga fede; nyhan syndrome; lesch nyhan ... See more keywords
Anaesthetic management of a child with Lesch Nyhan syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Indian Journal of Anaesthesia"
DOI: 10.4103/ija.ija_602_19
Abstract: Lesch-Nyhan (LN) syndrome, is a X-linkedrecessive-disorder affecting predominantly males, caused by deficiency of hypoxanthine-guanine-p hosphoribosyl-transferase (HGPRT) an important enzyme in the uric acid metabolism. The syndrome is characterised by self-aggression, self-mutilation, choreoathetosis and intellectual abnormalities.[1]… read more here.
Keywords: nyhan syndrome; lesch nyhan; child lesch; management child ... See more keywords