creatine 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)
| Excerpt | Relevance | Reference |
|---|---|---|
| " We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency)." | 3.74 | Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency. ( Merinero, B; Puig, JG; Torres, RJ; Verdú, A, 2008) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Pearson, TS | 1 |
| Pons, R | 1 |
| Ghaoui, R | 1 |
| Sue, CM | 1 |
| Verdú, A | 1 |
| Torres, RJ | 1 |
| Merinero, B | 1 |
| Puig, JG | 1 |
1 review available for creatine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Genetic mimics of cerebral palsy.
Topics: Adenylyl Cyclases; Ataxia; Ataxia Telangiectasia; Brain; Brain Diseases, Metabolic, Inborn; Carbohyd | 2019 |
1 other study available for creatine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Topics: Creatine; Creatinine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome | 2008 |