Sunday 6 March 2016

Gaucher’s disease | PGI MCQ

Gaucher’s disease occurs due to the enzymes deficiency of 

a. Sphingomyelinase 
b. Haxosaminidase A
c. Acid alpha glucocerebrosidase 
d. Galactosidase A 
e. lecithin deficiency



ANS. C

Gaucher's disease: hereditary deficiency of the enzyme glucocerebrosidase.
Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera of the eye.