What is Lesch Nyhan Syndrome?

By  ,  National Institute of Health
Jun 28, 2011
Comment

Subscribe for daily wellness inspiration

Like onlymyhealth on Facebook!

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).

 

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.

 


Write Comment Read ReviewDisclaimer Feedback
Is it Helpful Article?YES10540 Views 0 Comment