Lesch-Nyhan syndrome
ORPHA:510· ICD-10 E79.1
Definition
A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, intellectual disability, and self-injurious behaviour (SIB).
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy