ReviewMolecular syndromology2016
Lesch-Nyhan Syndrome: Models, Theories, and Therapies.
Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed.
- One-Carbon Metabolism and Midbrain Dopaminergic Cells in Lesch-Nyhan Disease.Molecular syndromology · 2026Review
- Deciphering the association between uric acid and kidney stones: insights into the mediating roles of BMI and serum iron: a cross-sectional study based on NHANES 2007-2018.International journal of surgery (London, England) · 2026Article
- Pediatric hyperuricemia: genetic basis, metabolic mechanisms, and clinical implications.Frontiers in endocrinology · 2026Review
- Exploring Exosome Contributions to Gouty Arthritis: A Proteomics and Experimental Study.International journal of molecular sciences · 2025Article
- Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.Annals of neurology · 2025Review
- The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development.Molecules (Basel, Switzerland) · 2025Review
- Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease.Stem cell reviews and reports · 2025Review
- Article
- Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome.Cureus · 2024Article
- Genetically modified mice as a tool for the study of human diseases.Molecular biology reports · 2024Review
- Lesch-Nyhan syndrome: a case report.Journal of the Korean Association of Oral and Maxillofacial Surgeons · 2023Article
- Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.Antioxidants (Basel, Switzerland) · 2023Article
- Article
- Research progress of risk factors and early diagnostic biomarkers of gout-induced renal injury.Frontiers in immunology · 2022Review
- Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy.Frontiers in pediatrics · 2022Article
- Chronic kidney disease and neurological disorders: are uraemic toxins the missing piece of the puzzle?Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Review
- Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.Stem cell reports · 2021Article
- Urate Transporters in the Kidney: What Clinicians Need to Know.Electrolyte & blood pressure : E & BP · 2021Review
- Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.Frontiers in neuroscience · 2021Review
- The Influence of Serum Uric Acid Level on Alzheimer's Disease: A Narrative Review.BioMed research international · 2021Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.