What is Lesch-Nyhan syndrome and its causes?

Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. A female who is a carrier of Lesch Nyhan syndrome has a 50\% chance of passing on the mutated HPRT1 gene in each pregnancy. This is because a carrier female will randomly pass on one of her X chromosome to each child.

How long do people with Lesch-Nyhan syndrome live?

With optimal medical care, individuals with Lesch-Nyhan disease typically live into their third or even fourth decade of life. Few patients live beyond 40 years.

Is there a cure for Lesch-Nyhan syndrome?

No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).

Can Lesch-Nyhan syndrome be prevented?

There are no guidelines to prevent Lesch-Nyhan syndrome. If you have a family history of this condition, you can talk to a genetic counselor when deciding whether to have children.

How was Lesch-Nyhan syndrome discovered?

History. The condition was described by Lesch and Nyhan in 1964. The enzymatic defect (deficiency of the enzyme HPRT) was discovered by Seegmiller and colleagues in 1967. The gene encoding the enzyme was cloned and sequenced by Friedmann and colleagues in 1985.

Can people with Lesch-Nyhan syndrome walk?

People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.

Is Lesch-Nyhan syndrome harmful?

Urate stones may develop in the kidneys of infants with Lesch-Nyhan syndrome as a result of excessive amounts of uric acid that are excreted as sodium urate. These stones may cause blood to appear in the urine (hematuria) and increase the risk of urinary tract infections.

Is Lesch-Nyhan syndrome common?

The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.

Who discovered Lesch-Nyhan?

Lesch-Nyhan syndrome (LNS) was first described at John Hopkins Hospital in 1964 (fig. ​ 1) by Michael Lesch and William Nyhan in 2 brothers with an unusual set of symptoms.