Lesch Nyhan syndrome is associated with deficiency of?
A complete deficiency of HP, the Lesch-Nyhan syndrome, is characterized by hyperuricemia, self-mutilative behavior, choreoathetosis, spasticity, and mental retardation. A paial deficiency of HP, the Kelley-Seegmiller syndrome, is associated with hyperuricemia but no central nervous system manifestations. In both disorders, the hyperuricemia results from urate overproduction and can cause uric acid crystalluria, nephrolithiasis, obstructive uropathy, and gouty ahritis. Early diagnosis and appropriate therapy with allopurinol can prevent or eliminate all the problems attributable to hyperuricemia but have no effect on the behavioral or neurologic abnormalities. Ref: Burns C.M., Womann R.L. (2012). Chapter 359. Disorders of Purine and Pyrimidine Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.
HP(paial)
HP(total)
PRPP(paial)
PRPP(total)