Lesch Nyhan Syndrome - Pediatric Oncall

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

Childhood Ailments

Want an expert opinion? Put your query to our medical experts and get advice

Diet & Diseases

Head circuferences Calculator

Mid parental height Calculator

Body surface area Calculator

BMR Calculator

Temperature Calculator

Anion gap Calculator

	Specialist Answers
Question
I would really like to know some detailed information about Lesch Nyhan Syndrome, thanks
Answer
Lesch Nyhan Syndrome is a genetic disorder characterized by an enzyme deficiency resulting in neurological, renal and muscular problems. It leads to self mutilating problems. Frequently the first symptom is the presence of orange-colored crystal-like deposits (orange sand) in the diapers of affected infants. The deposits, which are called urate crystal formation, are caused by increased levels of uric acid in the urine due to deficiency of an enzyme. Sodium urate crystals also form in the joints, kidneys, central nervous system, and other tissues of the body. Other symptoms seen are kidney stones, blood in the urine, pain and swelling of the joints, difficulty swallowing, impaired kidney function, uncontrolled aggressive actions, muscle weakness, spastic muscle movements, involuntary writhing movements of the arms and legs. Moderate mental retardation is also common. Treatment is symptomatic such as allopurinol for urate stones. The prognosis is poor. Back to All Questions

"Get the Vaccine Schedule for your child."

Share Experience

Message Board

Translate this page

Pediatric oncall book store

Partner Sites

Pediatric Oncall Journal

Educational Section

Disclaimer:

The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.

Sitemap For Doctor

Sitemap For Parent

Sitemap For Kids