About 120 results

ALLMedicine™ Lesch-nyhan Disease Center

Research & Reviews  44 results

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesc...
Pediatric Neurology; Garcia-Romero MDM, Torres RJ et. al.

Dec 11th, 2021 - Lesch-Nyhan disease (LND) is a disease of purine metabolism linked to chromosome X due to the absence or near-absence of enzyme hypoxanthine-guanine phosphoribosyltransferase. Patients with LND have a compulsive autoaggressive behavior that consis...

Microstructural white matter abnormalities in Lesch-Nyhan disease.
The European Journal of Neuroscience; Del Bene VA, Crawford JL et. al.

Nov 6th, 2021 - Lesch-Nyhan disease is a rare, sex-linked, genetic neurodevelopmental disorder that is characterized by hyperuricemia, dystonia, cognitive impairment and recurrent self-injury. We previously found reduced brain white matter volume in patients with...

HPRT1 Disorders - GeneReviews® - NCBI Bookshelf

Aug 6th, 2020 - HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) an...

Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
Proceedings of the National Academy of Sciences of the Un... López JM, Outtrim EL et. al.

May 21st, 2020 - Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction. However, uric acid is not responsible for brain dysfunction, and it has been suggested th...

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and toph...
Renal Failure; Ambarsari CG, Cahyadi D et. al.

Jan 28th, 2020 - Background: Lesch-Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.Case report: A 15-year-old male who had be...

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Clinicaltrials.gov  4 results

Trial of Kuvan in Lesch-Nyhan Disease

Aug 2nd, 2019 - Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism which results from mutation in the gene for the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT); patients have hyperuricemia, gout, urinary tract calculi, and nephr...

Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease

Oct 8th, 2015 - This study will be done in approximately 6 centers in approximately 4 countries, and approximately 24 subjects will be included. This study is divided into two parts. The first is a double-blinded portion lasting up to 18 weeks in total. The secon...

Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease

Apr 18th, 2013 - The purpose of this study is to determine the effects of ecopipam in patients with Lesch-Nyhan Disease (LND). Ecopipam specifically blocks the actions of one chemical in the brain that helps nerves talk to one another; ecopipam does this by stoppi...

Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease

Jun 24th, 2005 - PROTOCOL OUTLINE: After a 3-day baseline, patients are treated with aminoimidazole carboxamide riboside (AICAR) by continuous infusion for 12 days. Concurrent allopurinol and folate are allowed.

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