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Lesch Nyhan

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https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#1
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27906640/a-review-of-the-implication-of-hypoxanthine-excess-in-the-physiopathology-of-lesch-nyhan-disease
#2
R J Torres, C Prior, M G Garcia, J G Puig
Lesch-Nyhan disease is caused by HGprt deficiency, however, the mechanism by which enzyme deficiency leads to the severe neurological manifestations is still unknown. We hypothesized that hypoxanthine excess leads, directly or indirectly, through its action in adenosine transport, to aberrations in neuronal development. We found that hypoxanthine diminishes adenosine transport and enhances stimulation of adenosine receptors. These effects cause an imbalance between adenosine, dopamine, and serotonin receptors in HGprt deficient cells, and cells differentiated with hypoxanthine showed an increase in dopamine, adenosine and serotonin receptors expression...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27906614/development-of-new-forms-of-self-injurious-behavior-following-total-dental-extraction-in-lesch-nyhan-disease
#3
Livia Gisbert de la Cuadra, Rosa J Torres, Luis M Beltrán, Arantxa Sánchez, Juan G Puig
We report two Lesch-Nyhan Disease (LND) patients who developed new forms of self-injurious behavior following total dental extraction. Patients 1 and 2 were submitted to total teeth extraction at the age of 13 and 8 years, respectively, due to continuous self-biting, not prevented by mouth guards. Severity of dystonia was markedly reduced and quality of life improved. After 12 and 17 months, respectively, patient 1 started rubbing one foot against other and scratching toenails with his hands, and patient 2 stuck his legs and feet against hard objects...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27858372/severe-respiratory-acidosis-in-status-epilepticus-as-a-possible-etiology-of-sudden-death-in-lesch-nyhan-disease-a-case-report-and-review-of-the-literature
#4
Alison Christy, William Nyhan, Jenny Wilson
INTRODUCTION: Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients. CASE: We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27833236/self-injurious-behavior-in-a-young-child-with-lesch-nyhan-syndrome
#5
Satyakam Mohapatra, Alok Jyoti Sahoo
Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available. We report a case of LNS in an 8-year-old male child, who presented with characteristic self-injurious behavior.
September 2016: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/27754763/novel-mutation-in-hprt1-causing-a-splicing-error-with-multiple-variations
#6
Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient...
October 18, 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27420966/hprtyale-proposed-as-a-pathogenic-variant-for-lesch-nyhan-syndrome-a-case-report
#7
E Stur, R S Reis, L P Agostini, A M A Silva-Conforti, I D Louro
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded by the HPRT1 gene. The classic disease phenotype described by Lesch and Nyhan in 1964 includes hyperuricemia, mental retardation, severe motor deficiency, and recurring self-mutilation. Here, we report the case of a family with 4 affected males and several female obligate carriers. In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale...
2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27379977/mutation-in-the-human-hprt1-gene-and-the-lesch-nyhan-syndrome
#8
Khue Vu Nguyen, William L Nyhan
Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel mutation which led to HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency...
August 2, 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27365935/lesch-nyhan-syndrome-disorder-of-self-mutilating-behavior
#9
Prasad Jathar, Amey M Panse, Madhura Jathar, Pritesh N Gawali
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, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Prevention of self-mutilation raises significant difficulties. A case of a 10-month-old boy with aggressive behavior and severe lower lip injuries is presented. How to cite this article: Jathar P, Panse AM, Jathar M, Gawali PN...
April 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27295197/the-effect-of-s-adenosylmethionine-on-self-mutilation-in-a-patient-with-lesch-nyhan-disease
#10
Matthias Lauber, Barbara Plecko, Miriam Pfiffner, Jean-Marc Nuoffer, Johannes Häberle
BACKGROUND: Lesch-Nyhan disease (LND) is an X-chromosomal disorder of purine metabolism characterized by hyperuricemia, dystonia, and self-mutilation, leading to an extremely high burden of disease in affected patients and families. Although allopurinol therapy can control hyperuricemia, it has no effect on self-mutilation and neurological symptoms. Single reports describe a beneficial effect of S-adenosylmethionine (SAM) on the neurological symptoms, which motivated us to evaluate this alternative treatment...
June 14, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27221022/non-targeted-metabolomics-by-high-resolution-mass-spectrometry-in-hprt-knockout-mice
#11
Sarah K Tschirner, Heike Bähre, Alexander Kaever, Erich H Schneider, Roland Seifert, Volkhard Kaever
AIMS: Lesch-Nyhan disease (LND) is characterized by hyperuricemia as well as neurological and neuropsychiatric symptoms including repetitive self-injurious behavior. Symptoms are caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) as a result of a mutation on the X chromosome. To elucidate the pathophysiology of LND, we performed a metabolite screening for brain and serum extracts from HPRT knockout mice as an animal model for LND. MAIN METHODS: Analyses were performed by high performance liquid chromatography (HPLC)-coupled quadrupole time-of-flight mass spectrometry (QTOF-MS)...
July 1, 2016: Life Sciences
https://www.readbyqxmd.com/read/27216368/towards-rational-drug-treatment-of-lesch-nyhan-disease
#12
Roland Seifert
Lesch-Nyhan disease (LND) is a rare X-chromosomal purine metabolism disorder. LND is characterized by self-injurious behavior (SIB) for which there is no drug treatment. This commentary places a recent clinical study by Khasnavis et al. (Mol. Genetic. Metab., in press) on drug treatment of SIB into a broader context. Although the study by Khasnavis et al. was no break-through in terms of "positive" results, nonetheless, it presents an excellent model of how clinical studies in general and clinical studies on rare diseases should be conducted...
July 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27206901/neurotransmitter-and-their-metabolite-concentrations-in-different-areas-of-the-hprt-knockout-mouse-brain
#13
Sarah K Tschirner, Frank Gutzki, Erich H Schneider, Roland Seifert, Volkhard Kaever
Lesch-Nyhan syndrome (LNS) is characterized by uric acid overproduction and severe neurobehavioral symptoms, such as recurrent self-mutilative behavior. To learn more about the pathophysiology of the disease, we quantified neurotransmitters and their metabolites in the cerebral hemisphere, cerebellum and the medulla oblongata of HPRT knockout mice, an animal model for LNS, in comparison to the corresponding wild-type. Our analyses included l-glutamate, 4-aminobutanoic acid (GABA), acetylcholine, serotonin, 5-hydroxyindoleacetic acid (5-HIAA), norepinephrine, l-normetanephrine, epinephrine and l-metanephrine and were conducted via high performance liquid chromatography (HPLC) coupled to tandem mass spectrometry (MS/MS)...
June 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27185581/acute-renal-failure-unmasking-lesch-nyhan-disease-in-a-patient-with-tuberous-sclerosis-complex
#14
Julia Thumfart, Bernhard Weschke, Hannelore Ringe, Natalie Weinhold, Dominik Müller
CASE REPORT: We report on a male patient with Tuberous Sclerosis Complex (TSC), which was prenatally diagnosed. At the age of 3 months the patient developed acute renal failure with excessive hyperuricemia. Kidney function improved after rehydration and application of rasburicase, however without full recovery. Due to the inappropriate high levels of uric acid compared to kidney function, screening of hypoxanthine-guanine phosphoribosyltransferase (HPRT) related diseases was initiated...
December 0: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27185277/reduced-levels-of-dopamine-and-altered-metabolism-in-brains-of-hprt-knock-out-rats-a-new-rodent-model-of-lesch-nyhan-disease
#15
Stephen Meek, Alison J Thomson, Linda Sutherland, Matthew G F Sharp, Julie Thomson, Valerie Bishop, Simone L Meddle, Yoann Gloaguen, Stefan Weidt, Karamjit Singh-Dolt, Mia Buehr, Helen K Brown, Andrew C Gill, Tom Burdon
Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides. Although this biochemical defect reconfigures purine metabolism and leads to elevated levels of the breakdown product urea, it remains unclear exactly how loss of HPRT activity disrupts brain function. As the rat is the preferred rodent experimental model for studying neurobiology and diseases of the brain, we used genetically-modified embryonic stem cells to generate an HPRT knock-out rat...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27179999/a-double-blind-placebo-controlled-crossover-trial-of-the-selective-dopamine-d1-receptor-antagonist-ecopipam-in-patients-with-lesch-nyhan-disease
#16
Tanya Khasnavis, Rosa J Torres, Barbara Sommerfeld, Juan Garcia Puig, Richard Chipkin, H A Jinnah
Lesch-Nyhan disease (LND) is a genetic disorder that has characteristic metabolic, neurologic, and behavioral features. There are multiple behavioral problems including impulsivity, aggressiveness, and severe recurrent self-injurious behavior (SIB). This last behavior varies considerably across subjects and may encompass self-biting, self-hitting, scratching, head banging, and other injurious actions. Current treatments for SIB involve behavioral extinction, sedatives, physical restraints, and removal of teeth...
July 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27079129/nephrocalcinosis-and-renal-failure-in-lesch-nyhan-syndrome-report-of-two-familial-cases-and-review-of-the-literature
#17
E Vargiami, N Printza, E Papadimiditriou, S Batzios, M Kyriazi, F Papachristou, D I Zafeiriou
Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HRPT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological symptoms and signs (mainly a combination of spastic diplegia with choreoathetosis and an overall psychomotor redardation). Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c...
April 11, 2016: Urology
https://www.readbyqxmd.com/read/27029809/the-use-of-perinatal-6-hydroxydopamine-to-produce-a-rodent-model-of-lesch-nyhan-disease
#18
Darin J Knapp, George R Breese
Lesch-Nyhan disease is a neurologically, metabolically, and behaviorally devastating condition that has eluded complete characterization and adequate treatment. While it is known that the disease is intimately associated with dysfunction of the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene that codes for an enzyme of purine metabolism (hypoxanthine-guanine phosphoribosyltransferase) and is associated with neurological, behavioral, as well as metabolic dysfunction, the mechanisms of the neurobehavioral manifestations are as yet unclear...
2016: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/27013467/hypoxanthine-intrastriatal-administration-alters-neuroinflammatory-profile-and-redox-status-in-striatum-of-infant-and-young-adult-rats
#19
Helena Biasibetti, Paula Pierozan, André Felipe Rodrigues, Vanusa Manfredini, Angela T S Wyse
Hypoxanthine, the major oxypurine metabolite involved in purine's salvage pathway in the brain, is accumulated in Lesch-Nyhan disease, an inborn error of metabolism of purine. The purpose of this study was to investigate the effects of hypoxanthine intrastriatal administration on infant and young adult rats submitted to stereotactic surgery. We analyzed the effect of hypoxanthine on neuroinflammatory parameters, such as cytokine levels, immunocontent of NF-κB/p65 subunit, iNOS immunocontent, nitrite levels, as well as IBA1 and GFAP immunocontent in striatum of infant and young adult rats...
March 24, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/26922636/a-clinical-trial-of-safety-and-tolerability-for-the-selective-dopamine-d1-receptor-antagonist-ecopipam-in-patients-with-lesch-nyhan-disease
#20
Tanya Khasnavis, Gail Reiner, Barbara Sommerfeld, William L Nyhan, Richard Chipkin, H A Jinnah
Lesch-Nyhan disease (LND) is an inherited metabolic disorder characterized by the overproduction of uric acid and distinct behavioral, cognitive, and motor abnormalities. The most challenging clinical problem is self-injurious behavior (SIB), which includes self-biting, self-hitting, self-abrasion, and other features. Currently, these behaviors are managed by behavioral extinction, sedatives, physical restraints, and removal of teeth. More effective treatments are needed. Pre-clinical studies have led to the hypothesis that D1-dopamine receptor antagonists may provide useful treatments for SIB in LND...
April 2016: Molecular Genetics and Metabolism
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