Loading....
Coupon Accepted Successfully!

Pathology

Open Flashcards

Genetics

Question
1 out of 18
 

Gaucher's disease is due to: (AIIMS May 2014)



A Glucocerebroside deficiency

B Accumulation of glucocerebroside

C Sphingomyelin deposition

D Glycogen deposition

Ans. B Accumulation of glucocerebroside

Lysosomal Diseases:

a. Tay-Sachs disease (Gm2 - Gangliosidosis type 1) ­

i. Deficiency of Hexosaminidase A and activation of isoenzyme Hexosaminidase B is increased.

b. Niemann- Pick diseases (diagnosed by liver or bone marrow biopsy)

i. Deficiency of sphingomyelinase

c. Gaucher's disease- deficiency of glucocerebrosidase and accumulation of glucocerebroside.

d. Diagnosis by B. M. aspiration

i. NP disease

ii. Gaucher's disease

iii. Mucopolysaccharidosis (MPS)

Genetics Flashcard List

18 flashcards
1)
2)
3)
4)
5)
6)
7)
8)
9)
10)
11)
12)
13)
14)
15)
16)
17)
18)