Lesch Nyhan syndrome
How is it treated?
Allopurinol is a drug used to reduce uric acid production but the dose must be carefully monitored as too much can produce xanthine, which is more insoluble than uric acid and will cause kidney damage and stones.
The effectiveness of medication in treating the self-injurious behaviour has been variable. Behaviour modification techniques can be helpful in some cases. Stress reduction is generally viewed as a useful and effective method of intervention. The mechanism of the neurological impairments is not fully understood and there are as yet no effective treatments for these neurological complications. Life expectancy is reduced. In many cases death occurs in the twenties or thirties but some men are living beyond forty.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis ![]()