Page last updated: 2024-10-20

uracil and Lesch-Nyhan Syndrome

uracil has been researched along with Lesch-Nyhan Syndrome in 2 studies

2,4-dihydroxypyrimidine: a urinary biomarker for bipolar disorder

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
Shambaugh, GE1
Krooth, RS1
May, SR1
Stern, HJ1

Reviews

2 reviews available for uracil and Lesch-Nyhan Syndrome

ArticleYear
Pyrimidine biosynthesis.
    The American journal of clinical nutrition, 1979, Volume: 32, Issue:6

    Topics: Animals; Aspartate Carbamoyltransferase; Bicarbonates; Carbamoyl-Phosphate Synthase (Ammonia); Carba

1979
A theory for the chemical mediation of the excitability of the brain, with special reference to natural and drug-induced sleep.
    Journal of theoretical biology, 1977, Jun-21, Volume: 66, Issue:4

    Topics: Anticonvulsants; Arousal; Barbiturates; Brain; Brain Chemistry; Catecholamines; Cyclic AMP; Epilepsy

1977