Lesch-Nyhan syndrome develops because of the buildup and over-production of uric acid that is a waste product found normally in urine and blood. This over-production of uric acid may be the reason for bladder stones, kidney stones, as well as gouty arthritis which is a form of arthritis developed because of the buildup in the joints of uric acid. This disorder also has characteristic problems with behavior and also problems with the nervous system.
Individuals with Lesch-Nyhan syndrome normally are unable to walk, are usually wheelchair-bound and need assistance just sitting. A behavior problem that is distinctive with Lesch-Nyhan syndrome are head banging.
Lesch-Nyhan syndrome is a disorder which is inherited and affects the way the body breaks down and builds purine which is a normal portion of human tissue and aid in the body’s genetic blueprint. Purines are as well found in different foods.
With children the excess uric acid causes gout-like swelling to occur in some joints. Males with Lesch-Nyhan can have motor development which is delayed and is followed by sinuous movements as well as increased deep tendon reflexes. One of the features of Lesch-Nyhan syndrome which is striking is the self-destructive habits of chewing off lips and fingertips usually when not held down. It is not known how the deficiency of an enzyme can cause such problems.
Physical exams will show:
- Over exaggerated reflexes
Urine and blood test will reveal the high levels of uric acid. A biopsy of the skin can show levels that are decreased in the HGP enzyme.
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