Enzyme replacement therapy is available for the treatment of the following disorder-
Correct Answer: Gaucher' disease
Description: Ans. is 'a' i.e. Gaucher's diseaseRef: Harrison 17th/Ep 2455 & 16th/Ep 2319 (15th/e p2280)The t/t of choice for Gaucher's disease is enzyme replacement therapy. A recombinantly produced mannose terminated enzyme called Cerezyme is used in the t/t of Gaucher's diseaseAbout the t/t 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 -T/T of phenylketonuria is to limit dietary intake of phenylalanine to amounts that permit normal growth and development.We could not get the t/t for - Hunter syndromeImp, points about Gaucher's diseaseIt's an autosomal recessive disorder *It results from the defective activity of b-glucosidase*b-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.
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