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