Lysosomal Storage Disease

Question 1

Tay Sachs disease shows a berry red spot and what enzyme deficiency and accumulation

Answer 1

Deficiency: beta hexosamidinase A, INC: GM2 gaglioside

Question 2

Gaucher’s disease has a deficiency of ________ and presents with ________ macrophages

Answer 2

beta-glucocerebrosidase, lipid laden “wrinkled tissue paper”