False about Gaucher's disease
Beta Glucocerebrosidase defective
Cherry red spots on fundoscopy
Erlenmeyer's flask deformity
Tarate resistant acid phosphatase -ve
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
All India exam