Lesch nyhan syndrome due fo-
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
HGPRT ase deficieny (complete)
HGPRT ase deficiency (partial)
Hexosaminidase deficiency (complete)
Hexosaminidase deficiency (partial)