Lesch-Nyhan Research

Medical Papers & Published Studies

This collection brings together peer-reviewed medical papers and published articles on Lesch-Nyhan syndrome, covering genetics, natural history studies, behavioral management, and promising therapeutic approaches. Whether you’re a researcher, clinician, or family member, you’ll find clear summaries of key findings, links to original studies, and practical takeaways for care and research planning. Bookmark this page to stay up to date with major publications and advances in treatment strategies.

General

HPRT1 Disorders
Synonyms: HGprt Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hyder A Jinnah, MD, PhD.
Author Information and Affiliations
Initial Posting: September 25, 2000; Last Update: August 6, 2020

Behavior

Dental

Consequences of Delayed Dental Extraction in Lesch‐Nyhan Disease - PMC
Emily M Goodman 1, Rosa J Torres 2, Juan G Puig 3, Hyder A Jinnah 4,✉
- Author information
- Article notes
- Copyright and License information
PMCID: PMC4237204 NIHMSID: NIHMS594137 PMID: 25419535

Medication

Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease
Jasper E Visser a,b,c,*, Odelia Chorin d, HA Jinnah e
- Author information
- Article notes
- Copyright and License information
PMCID: PMC11170110 NIHMSID: NIHMS1998353 PMID: 38653184
Levodopa is Not a Useful Treatment for Lesch-Nyhan Disease
Jasper E Visser 1,2,*, David J Schretlen 3, Bastiaan R Bloem 1, Hyder A Jinnah 4
- Author information
- Article notes
- Copyright and License information
PMCID: PMC3523804 NIHMSID: NIHMS416989 PMID: 21506156
The publisher's version of this article is available at Mov Disord

Medical Procedures

Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
Jasper E Visser, Adam C Cotton, David J Schretlen, Jocelyne Bloch, Kristina Tedroff, Gastón Schechtmann, Diana Radu Djurfeldt, Victoria Gonzalez, Laura Cif, Hyder A Jinnah
First published: 10 March 2021
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome
Eugenia ROZA 1,2, Anca Denisa BALOI 3, Vasilica PLAIASU 4, Raluca Ioana TELEANU 5,6
- Author information
- Copyright and License information
PMCID: PMC10427108 PMID: 37588833

Research

Lesch-Nyhan Syndrome: Models, Theories, and Therapies
1, Ilaria Kolobova 1, Liam Crapper 1, Carl Ernst 1,*
- Author information
- Article notes
- Copyright and License information
PMCID: PMC5131334 PMID: 27920633

Respiratory

Sudden death in Lesch-Nyhan disease
Vladimir Kostadinov Neychev 1, H A Jinnah 1,*
- Author information
- Copyright and License information
PMCID: PMC3507438 NIHMSID: NIHMS416987 PMID: 17044962

Community Resources

Studies and Research

Lesch-Nyhan Research

General

HPRT1 Disorders Synonyms: HGprt Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency / Initial Posting: September 25, 2000; Last Update: August 6, 2020

Behavior

Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function.

Jinnah HA, Ceballos-Picot I, Torres RJ, et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010;133:671-689.

Hagopian, L and Frank-Crawford, M. Classification of self-injurious behaviour across the continuum of relative environmental-biological influence. Review J Intellect Disabil Res. 2018 Dec; 62(12):1108-1113.

Robey, KL, Reck, JF, Giacomini, KD, Barabas, G, and Eddey, GE. Modes of self-mutilation and their patterns of association in persons with Lesch-Nyhan disease. Developmental Medicine and Child Neurology, 45, 2003;167-171.

Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. Schretlen, D, Varvaris, M, Vannorsdall, T, Gordon, B, Harris, J, and Jinnah, H. Neurology. 2015 Jan 13; 84(2): 190–196.

Schretlen, DJ, Ward, J, Meyer, S, Yun, J., Puig, JG, Nyhan, W, Jinnah, HA, Harris, JC. Behavioral aspects of Lesch–Nyhan disease and its variants; Dev Med and Child Neuro, 2005 47: 673–677.

9 Zumwoff, P, Lesch-Nyhan Disease, in Matheny Bulletin, Barabas, G. Editor, Matheny Hospital, Peapack, NJ; v3, no 2, special Fall 1993 edition. Accessed online January 7, 2021: https://files.eric.ed.gov/fulltext/ED370289.pdf

Riley, I. D., Gout and cerebral palsy in a three year old boy, Arch. Dis. Childh. 1960 35:293.

Goodman EM, Torres RJ, Puig JG, Jinnah HA. Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease. Mov Disord Clin Pract. 2014 Sep;1(3):225-229. doi: 10.1002/mdc3.12040. PMID: 25419535; PMCID: PMC4237204.

Harris, JC. Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype. Curr Opin Psychiatry. 2018; 31(2):96-102.

Dental

Consequences of Delayed Dental Extraction in Lesch‐Nyhan Disease /June 2014

Medication

Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease

Levodopa is Not a Useful Treatment for Lesch-Nyhan Disease

Medical Procedures

Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective / October 2021

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome /June 2023

Research

Lesch-Nyhan Syndrome: Models, Theories, and Therapies /September 2016

Respiratory

Sudden death in Lesch-Nyhan disease / November 2006