<prompt> Enzyme replacement therapy is available for the treatment of the following disorder-Gaucher diseaseNiemann-Pick diseaseHunter syndromePhenylketonuria  <response>: Ans. is a i.e. Gauchers diseaseRef: Harrison 17thEp 2455 16thEp 2319 15the p2280The tt of choice for Gauchers disease is enzyme replacement therapy. A recombinantly produced mannose terminated enzyme called Cerezyme is used in the tt of Gauchers diseaseAbout the tt of other options.Treatment of Niemann Pick disease -There is no specific treatment of Niemann pick disease.The efficacy of hepatic or bone marrow transplantation has not been proven. Clinical trials using enzyme therapy are anticipated to begin soon.Treatment of Phenylketonuria -TT of phenylketonuria is to limit dietary intake of phenylalanine to amounts that permit normal growth and development.We could not get the tt for - Hunter syndromeImp, points about Gauchers diseaseIts an autosomal recessive disorder It results from the defective activity of b-glucosidaseb-glucosidase cleaves glucosylceramide. the parent compound of many glycosphingolipids and glucolipid.Diagnosis is established by demonstrating decreased acid b-glucosidase activity 0 to 20 of normal in nucleated cells. 