Abstract
Lesch-Nyhan (LND) disease is an inborn error of purine metabolism which results from deficiency of the activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT). In the classical form of the disease the activity of the enzyme is completely deficient and the patient has cognitive impairment, spasticity, dystonia and self-injurious behaviour, as well as elevated concentrations of uric acid in blood and urine that leads to consequences such as nephropathy, urinary tract calculi and tophaceous gout. There are disease variants without self-injurious behaviour. In these cases neurological manifestations may vary widely. The HPRT1 gene is located on the X chromosome in position Xq26-27.2, and mutations have been found in quite a large number of patients. Documenting our experience with the diagnosis of LND in 45 Italian patients from 35 nonrelated families and 77 females at risk of being carriers of the condition. Internal review. An institute devoted to the investigation and care of patients with rare diseases. In 94% of the LND families gDNA sequencing of the patients was informative while in 6% a cDNA study was required. For the carrier females gDNA sequencing was informative in 71% of the families, 23% required qPCR studie...Continue Reading
References
Jan 1, 1990·Journal of Inherited Metabolic Disease·M Wehnert, F H Herrmann
Apr 1, 1990·Human Genetics·S FujimoriI Akaoka
Jun 1, 1990·Genomics·R A GibbsC T Caskey
Jul 1, 1989·The Journal of Clinical Investigation·B L DavidsonW N Kelley
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1986·The Journal of Clinical Investigation·J M WilsonC T Caskey
Jan 1, 1981·Journal of Inherited Metabolic Disease·T PageW L Nyhan
Nov 7, 1998·Mutation Research·J P O'NeillJ A Nicklas
Oct 6, 2000·Mutation Research·H A JinnahJ P O'Neill
Mar 22, 2006·Brain : a Journal of Neurology·H A JinnahUNKNOWN Lesch-Nyhan Disease International Study Group
Oct 10, 2006·Molecular Genetics and Metabolism·Yasukazu YamadaNobuaki Wakamatsu
Dec 11, 2007·Orphanet Journal of Rare Diseases·Rosa J Torres, Juan G Puig
Jul 5, 2008·Nucleosides, Nucleotides & Nucleic Acids·Yasukazu YamadaShin Fujimori
Sep 10, 2008·Archives of Neurology·Uros HladnikMatteo Bertelli
Nov 20, 2008·Journal of Inherited Metabolic Disease·A JureckaE Pronicka
Feb 24, 2010·Brain : a Journal of Neurology·H A JinnahUNKNOWN Lesch-Nyhan Disease International Study Group
Citations
Dec 14, 2011·The Journal of Biological Chemistry·Rong Fu, H A Jinnah
Sep 5, 2013·Nucleosides, Nucleotides & Nucleic Acids·Diego DolcettaUros Hladnik
Dec 21, 2010·Current Opinion in Rheumatology·Hisashi Yamanaka
Oct 29, 2010·Human Genetics·Radhika SampatH A Jinnah
Dec 31, 2014·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·N LiuM Jiang
Aug 27, 2013·Brain : a Journal of Neurology·Rong FuUNKNOWN Lesch-Nyhan Disease International Study Group
May 20, 2017·Nucleosides, Nucleotides & Nucleic Acids·Khue Vu NguyenWilliam L Nyhan
May 28, 2019·Metabolic Brain Disease·Ja Hyang ChoHan-Wook Yoo
Feb 3, 2011·Current Opinion in Rheumatology