Page last updated: 2024-10-20

thymine and Lesch-Nyhan Syndrome

thymine has been researched along with Lesch-Nyhan Syndrome in 1 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 (1)

TimeframeStudies, this research(%)All Research%
pre-19901 (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
Davidson, BL1
Palella, TD1
Kelley, WN1

Other Studies

1 other study available for thymine and Lesch-Nyhan Syndrome

ArticleYear
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
    Gene, 1988, Aug-15, Volume: 68, Issue:1

    Topics: Adenine; Amino Acid Sequence; B-Lymphocytes; Base Sequence; Cells, Cultured; Cloning, Molecular; DNA

1988