| Entry |
|
| Name |
HPRT1 deficiency in guanine metabolism
|
| Definition |
Guanine -- GDA >> XDH -> Urate |
| Expanded |
C00242 -- 9615 >> 7498 -> C00366 |
| Class |
|
| Type |
Reference
|
| Pathway |
|
| Gene |
| 9615 | GDA; guanine deaminase |
| 7498 | XDH; xanthine dehydrogenase |
|
| Metabolite |
|
| Reference |
|
| Authors |
Torres RJ, Puig JG |
| Title |
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. |
| Journal |
|
| LinkDB |
|