Page last updated: 2024-10-20

pteridines and Lesch-Nyhan Syndrome

pteridines has been researched along with Lesch-Nyhan Syndrome in 2 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

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19902 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Watts, RW1
Manzke, H1
Gustmann, H1
Koke, HG1
Nyhan, WL1

Reviews

1 review available for pteridines and Lesch-Nyhan Syndrome

ArticleYear
Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism (the Lesch-Nyhan syndrome).
    Advances in enzyme regulation, 1985, Volume: 23

    Topics: Biopterins; Brain; Dopamine; GTP Cyclohydrolase; Humans; Hypoxanthine Phosphoribosyltransferase; Les

1985

Other Studies

1 other study available for pteridines and Lesch-Nyhan Syndrome

ArticleYear
Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    Topics: Adult; Allopurinol; Biopterins; Drug Administration Schedule; Humans; Hypoxanthine; Hypoxanthines; L

1986