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)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 2 (100.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Shambaugh, GE | 1 |
Krooth, RS | 1 |
May, SR | 1 |
Stern, HJ | 1 |
2 reviews available for uracil and Lesch-Nyhan Syndrome
Article | Year |
---|---|
Pyrimidine biosynthesis.
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.
Topics: Anticonvulsants; Arousal; Barbiturates; Brain; Brain Chemistry; Catecholamines; Cyclic AMP; Epilepsy | 1977 |