Lesch-Nyhan syndrome
Last updated: Friday, 06, August, 2010
| Presentation | Appropriate Tests |
|---|---|
Urate; urine - urate. Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) assay - consult pathologist. | |
Coloured urine | |
Self mutilation | |
Mental retardation | |
Extrapyramidal features | |