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Physiology All India exam 6babea05

False about Gaucher's disease

A
Beta Glucocerebrosidase defective
B
Cherry red spots on fundoscopy
C
Erlenmeyer's flask deformity
D
Tarate resistant acid phosphatase -ve
High-Yield Explanation
Three biochemical markers of gaucher disease Angiotensin-conveing enzyme ( ACE ) Tarate-resistant acid phosphate ( TRAP ) Chitotriosidase ( CHITO ) These marker are elevated in active disease, these are useful indicators of disease progress and response to enzyme replacement therapy So gaucher disease is basically Tarate-resistant acid phosphatase positive as the disease is being treated the levels of TRAP gradually declines

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