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Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)

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)
Also Known As:
Choreoathetosis Self Mutilation Hyperuricemia Syndrome; Choreoathetosis Self-Mutilation Syndrome; Complete HGPRT Deficiency Disease; Complete HPRT Deficiency; Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency; Deficiency Disease, Complete HGPRT; Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase; Deficiency of Guanine Phosphoribosyltransferase; Deficiency of Hypoxanthine Phosphoribosyltransferase; HGPRT Deficiency; HGPRT Deficiency Disease, Complete; Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency; Hypoxanthine Guanine Phosphoribosyltransferase Deficiency; Hypoxanthine Phosphoribosyltransferase Deficiency; Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome; Juvenile Hyperuricemia Syndrome; Lesch-Nyhan Disease; Primary Hyperuricemia Syndrome; Total HPRT Deficiency; Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency; X-Linked Hyperuricemia; X-Linked Primary Hyperuricemia; Choreoathetosis Self Mutilation Syndrome; Choreoathetosis Self-Mutilation Syndromes; Complete HPRT Deficiencies; Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency; Deficiencies, Complete HPRT; Deficiencies, HGPRT; Deficiencies, Hypoxanthine Phosphoribosyltransferase; Deficiencies, Total HPRT; Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase; Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase; Deficiency, Complete HPRT; Deficiency, HGPRT; Deficiency, Hypoxanthine Phosphoribosyltransferase; Deficiency, Total HPRT; Guanine Phosphoribosyltransferase Deficiencies; Guanine Phosphoribosyltransferase Deficiency; HGPRT Deficiencies; HPRT Deficiencies, Complete; HPRT Deficiencies, Total; HPRT Deficiency, Complete; HPRT Deficiency, Total; Hyperuricemia Syndrome, Juvenile; Hyperuricemia Syndrome, Primary; Hyperuricemia Syndromes, Juvenile; Hyperuricemia Syndromes, Primary; Hyperuricemia, X-Linked; Hyperuricemia, X-Linked Primary; Hyperuricemias, X-Linked; Hyperuricemias, X-Linked Primary; Hypoxanthine Phosphoribosyl Transferase Deficiency Disease; Hypoxanthine Phosphoribosyltransferase Deficiencies; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases; Juvenile Hyperuricemia Syndromes; Lesch Nyhan Disease; Lesch Nyhan Syndrome; Phosphoribosyltransferase Deficiencies, Guanine; Phosphoribosyltransferase Deficiencies, Hypoxanthine; Phosphoribosyltransferase Deficiency, Guanine; Phosphoribosyltransferase Deficiency, Hypoxanthine; Primary Hyperuricemia Syndromes; Primary Hyperuricemia, X-Linked; Primary Hyperuricemias, X-Linked; Self-Mutilation Syndrome, Choreoathetosis; Self-Mutilation Syndromes, Choreoathetosis; Syndrome, Choreoathetosis Self-Mutilation; Syndrome, Juvenile Hyperuricemia; Syndrome, Primary Hyperuricemia; Syndromes, Choreoathetosis Self-Mutilation; Syndromes, Juvenile Hyperuricemia; Syndromes, Primary Hyperuricemia; Total HPRT Deficiencies; Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency; X Linked Hyperuricemia; X Linked Primary Hyperuricemia; X-Linked Hyperuricemias; X-Linked Primary Hyperuricemias; Choreoathetosis Self-Mutilation Hyperuricemia Syndrome; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Networked: 724 relevant articles (17 outcomes, 40 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Self Mutilation
2. Hyperuricemia
3. Dystonia (Limb Dystonia)
4. Intellectual Disability (Idiocy)
5. Inborn Genetic Diseases (Disease, Hereditary)

Experts

1. Jinnah, H A: 31 articles (01/2021 - 04/2000)
2. Nyhan, William L: 18 articles (01/2020 - 07/2003)
3. Torres, Rosa J: 17 articles (01/2022 - 02/2004)
4. Nguyen, Khue Vu: 17 articles (01/2021 - 06/2011)
5. Torres, R J: 13 articles (09/2017 - 03/2001)
6. Puig, Juan G: 11 articles (06/2018 - 02/2004)
7. Puig, J G: 11 articles (12/2016 - 03/2001)
8. Schretlen, David J: 10 articles (01/2021 - 05/2005)
9. Seifert, Roland: 10 articles (06/2016 - 08/2002)
10. Jinnah, Hyder A: 9 articles (01/2021 - 06/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lesch-Nyhan Syndrome:
1. Botulinum Toxins (Botulinum Toxin)IBA
2. Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
3. Uric Acid (Urate)IBA
4. EnzymesIBA
5. Proteins (Proteins, Gene)FDA Link
6. Neurotransmitter Agents (Neurotransmitter)IBA
7. Amyloid (Amyloid Fibrils)IBA
01/01/2015 - "Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome."
04/18/2014 - "Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome."
01/01/2019 - "Several pathophysiological functions of the human β-amyloid precursor protein (APP) have been recently proposed in different human diseases such as neurodevelopmental and neurodegenerative disorders including rare diseases such as autism, fragile X syndrome, amyotrophic lateral sclerosis, multiple sclerosis, Lesch-Nyhan disease; common and complex disorders such as Alzheimer's disease; metabolic disorders such as diabetes; and also cancer. "
01/01/2022 - "This article focuses on the following issues: (1) pathophysiology and clinical conditions of Arg393His in AT-Hanoi; (2) "two way association" between cancer and thrombosis in which venous thromboembolism (VTE) can be both a presenting sign and a complication of cancer; (3) efficacy of anticoagulants used for the prevention of cancer-related thrombosis; (4) conditions of acquired risk factors such as cancer or genetic disorders via epigenetic modifications in gene-gene (epistasis) and/or gene-environment interactions such as in Lesch-Nyhan disease (LND), in which the β-amyloid precursor protein (APP) that may interact to predispose a patient to thrombosis and cancer. "
01/01/2022 - "Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP). "
8. S-Adenosylmethionine (Ademetionine)IBA
9. Levodopa (L Dopa)FDA LinkGeneric
10. Clozapine (Clozaril)FDA LinkGeneric

Therapies and Procedures

1. Deep Brain Stimulation
2. Injections
3. Conservative Treatment
4. Therapeutics
5. Drug Therapy (Chemotherapy)