Lesch nyhan syndrome due fo-: (A) HGPRT ase deficieny (complete), (B) HGPRT ase deficiency (partial), (C) Hexosaminidase deficiency (complete), (D) Hexosaminidase deficiency (partial)
Answer is A. 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