Lesch-Nyhan Syndrome

Mark Lide

Description

Symptoms

  • Neurological and behavioral abnormalities
  • Overproduction of Uric acid (causing arthritis and kidney/bladder stones)
  • Hard to control muscles and thus often cause self-injury

Transmission

Lesch-Nyan Syndrome is passed on by a genetic mutation in the X chromosome. For it to be present in females, the mutation must be present in both X chromosomes which makes it much more rare however men only need the mutation in one X chromosome for the disease to be present.

Diagnosis

  • Behavioral traits
  • Family history
  • Genetic testing

Frequency

1 in every 380,000 people

Life Expectancy

Not life threatening however, self-injury may occur

Treatments

Generous hydration and allopurinol are used to keep Uric acid levels down but behavioral and neurological symptoms cannot be cured.

Interesting Facts

"X-linked" diseases cannot be transmitted from fathers to sons.

References

http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome

http://ghr.nlm.nih.gov/handbook/consult/diagnosis

http://www.encyclopedia.com/topic/Lesch-Nyhan_syndrome.aspx