Lesch-Nyhan syndrome

Last updated: Friday, 06, August, 2010
PresentationAppropriate Tests

Urate; urine - urate.

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) assay - consult pathologist.

Coloured urine

Self mutilation

Mental retardation

Extrapyramidal features

Hyperuricaemia