HONselect PATIENT / INDIVIDUAL MEDICAL PROFESSIONAL WEB PUBLISHER

Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    Lesch-Nyhan Syndrome Definition: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127) Synonym(s): Choreoathetosis Self-Mutilation Hyperuricemia Syndrome / Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease / Complete HGPRT Deficiency Disease / Deficiency Disease, Complete HGPRT / See also: Hypoxanthine Phosphoribosyltransferase    MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

More information from the Genetics Home Reference Website What is Lesch-Nyhan syndrome? Lesch-Nyhan syndrome is a condition characterized by the overproduction of uric acid, a nitrogen-containing compound found in blood and urine. The overproduction of uric acid can cause gouty arthritis (arthritis caused by uric acid in the joints), kidney stones, and bladder stones. Problems with the nervous system and behavioral disturbances are also characteristic of this disorder. Abnormal involuntary muscle movements such as flexing, jerking, flinging, and flailing are often displayed by people affected with this disorder. Self-injury, including biting and he ... How common is Lesch-Nyhan syndrome? The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations. More information from the Genetics Home Reference Website © Genetics Home Reference Browse - New search       Web resources for "Lesch-Nyhan Syndrome"   English (11)    German (3)         = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   Lesch-Nyhan syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com www.wrongdiagnosis.com   Orphanet Journal of Rare Diseases | Full text | Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan Syndrome www.ojrd.com   HONcode - http://www.healthatoz.com/healthatoz/Ato... www.healthatoz.com   HONcode - Lesch-Nyhan syndrome - Genetics Home Reference ghr.nlm.nih.gov 2 Lesch-Nyhan Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS) www.ninds.nih.gov 2 HONcode - Lesch-Nyhan syndrome: MedlinePlus Medical Encyclopedia www.nlm.nih.gov 2 rare-diseases — National Organization for Rare Disorders www.rarediseases.org   Whonamedit - Lesch-Nyhan syndrome or disease www.whonamedit.com   HONcode - Orphanet: Lesch Nyhan syndrome www.orpha.net 2 See also: - Hypoxanthine Phosphoribosyltransferase Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Neurodegenerative Diseases - Mental Retardation, X-Linked - Mental Retardation - Neurobehavioral Manifestations - Neurologic Manifestations - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities Browse - New search       Medical image(s) for "Lesch-Nyhan Syndrome" No results for this term. Browse other medical images in HONmedia? Broader term(s): - Brain Diseases, Metabolic - Brain Diseases Browse - New search       Medical News for "Lesch-Nyhan Syndrome" No results for this term. More health news Broader term(s): - Nervous System Diseases - Mental Retardation Browse - New search       Scientific articles from MEDLINE for "Lesch-Nyhan Syndrome"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Lesch-Nyhan Syndrome" ClinicalTrials.gov - Linking patients to medical research Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease Trial of Kuvan in Lesch-Nyhan Disease Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease Trial of Kuvan in Lesch-Nyhan Disease   More results Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Neurodegenerative Diseases - Mental Retardation - Neurobehavioral Manifestations - Neurologic Manifestations - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities Browse - New search       Medical Conferences/Events for "Lesch-Nyhan Syndrome" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Lesch-Nyhan Syndrome" Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy   Broader term(s):       Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Metabolism, Inborn Errors                       Purine-Pyrimidine Metabolism, Inborn Errors                        Brain Diseases, Metabolic, Inborn                    Brain Diseases, Metabolic                       Brain Diseases, Metabolic, Inborn        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Metabolism, Inborn Errors                       Purine-Pyrimidine Metabolism, Inborn Errors                        Brain Diseases, Metabolic, Inborn                    Heredodegenerative Disorders, Nervous System                       Mental Retardation, X-Linked        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Heredodegenerative Disorders, Nervous System                    Genetic Diseases, X-Linked                       Mental Retardation, X-Linked        Diseases           Nervous System Diseases               Neurologic Manifestations                   Neurobehavioral Manifestations                       Mental Retardation                           Mental Retardation, X-Linked                Neurodegenerative Diseases                   Heredodegenerative Disorders, Nervous System                Central Nervous System Diseases                   Brain Diseases                       Brain Diseases, Metabolic                           Brain Diseases, Metabolic, Inborn  MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

Most frequently used terms List of Rare Disease Add HONselect Extract MeSH Home About us MediaCorner HON newsletter Site map Ethical policies Contact /HONselect/RareDiseases/EN/C10.228.140.163.100.425.html last modified: May 1 2013 © copyright HON 2013