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Paediatric

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Metabolic Diseases

Question
4 out of 4
 

For which of the following diseases is enzyme replacement therapy available - (AIPG 2010)



A Albinism

B Neimann-Pick disease

C Metachromatic leukodystrophy

D Gaucher's disease

Ans. D

Gaucher's disease

'Enzme Replacement therapy is the treatment of choice for significantly afftected patients - Hatrison

'Cerezyme' a recombinantly produced acid p glucosidase is being currently used.