Lesch-Nyhan syndrome

Presentation

Appropriate Tests

 

Urate; Urate urine.

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

Additional information about genetic tests may be available in Catalogue of Genetic Tests and Laboratories.

Coloured urine

 

Self mutilation

 

Mental retardation

 

Extrapyramidal features

 

Hyperuricaemia