Usha Jadavabout 4 years ago

Lesch Nyhan syndrome

Also known as Nyhan's syndrome, kelley-seegmiller syndrome and juvenile gout. It is rare, inheritable, x-linked recessive, mostly affecting boys. It is due to deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), the enzyme of purine salvage. Symptoms: 1) Uric acid overproduction: Gouty arthritis, kidney stones or renal failure 2) Neurological disability: Motor disability and involuntary writhing 3) Behavioral abnormality: Self mutilation and lack of speech Biochemical confirmation: Azathioprine testing