Lesch-Nyhan Syndrome

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by morrisef798
Last updated 4 years ago

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Lesch-Nyhan Syndrome

There is no treatment or resolution to this disorder. This disorder effects the X chromosome which is why it is more likely to appear in males. Males only have one X chromosome so they don't have a second one to make up for the disease. The defective gene is that of hypoxanthine-guanine phosphoribosyltransferase (HPRT), this is where the mutation occurs.

4 to 6 months—lack of muscle tone and inability to lift the head6 months—unusual arching of the back9 months—inability to crawl or stand12 months—inability to walk12+ months—spasms of the limbs and facial muscles

-Delayed development-Blood in the urine-Pain and swelling of joints-Difficulty swallowing-Behavioral problems and self injury occur in all cases

Nervous System Impairment

Lesch-Nyhan Syndrome

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