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What is Lesch nyhan syndrome due fo- and explain in detail?
Ans. is 'a' i.e., HGPRTase deficiency (complete) Lesch Nyhan disease (LND) o X-link recessive disorder o Defect in purine metabolism o complete Deficiency of HPRT enzyme o Manifest as hyperuricemia, intellectual disability", dystonic movement disorder like chorea-athetosis, spasticity, dysarthric speech. Partial deficiency in HPRT ---- (Keltey-Seegmiller syndrome) Iduronate sulfate sulfatase def. - Hunter syndrome o Hexosaminidase dediciency seen in Tay-sachs disease o Glucocerebrosidase def - Gaucher disease o <-L Iduronidase def. in Hurler syndrome