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9-ethyladenine and Lesch-Nyhan Syndrome

9-ethyladenine has been researched along with Lesch-Nyhan Syndrome in 3 studies

Lesch-Nyhan 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)

Research Excerpts

ExcerptRelevanceReference
"The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation."7.68Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. ( Melton, DW; Wu, CL, 1993)
"It has been reported that 9-ethyladenine (9-EA) is an efficient inhibitor of APRT (adenine phosphoribosyltransferase) and that its administration causes self-injurious behavior (Lesch-Nyhan Syndrome-like symptoms) in HPRT (hypoxanthine-guanine phosphoribosyltransferase)-deficient mice."3.70No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine. ( Edamura, K; Sasai, H, 1998)
"The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation."3.68Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. ( Melton, DW; Wu, CL, 1993)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Wu, CL1
Melton, DW1
Ogasawara, N1
Edamura, K1
Sasai, H1

Reviews

1 review available for 9-ethyladenine and Lesch-Nyhan Syndrome

ArticleYear
[Complete and partial deficiency of HPRT].
    Nihon rinsho. Japanese journal of clinical medicine, 1996, Volume: 54, Issue:12

    Topics: Adenine; Animals; DNA; Genetic Therapy; Heterozygote; Humans; Hypoxanthine Phosphoribosyltransferase

1996

Other Studies

2 other studies available for 9-ethyladenine and Lesch-Nyhan Syndrome

ArticleYear
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
    Nature genetics, 1993, Volume: 3, Issue:3

    Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Brain; Caffeine; Cell Division; Cells, Cultured

1993
No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine.
    Pharmacology, biochemistry, and behavior, 1998, Volume: 61, Issue:2

    Topics: Adenine; Animals; Cell Extracts; Disease Models, Animal; Hypoxanthine Phosphoribosyltransferase; Les

1998