Lysosomal Storage diseases

Question 1

Which lysosomal storage disease is associated with renal failure?

Answer 1

Fabry’s disease

Question 2

What is the method of inheritance of all except 2 lysosomal storage diseases?

Answer 2

Autosomal recessive

Question 3

what are the 2 that are X-linked recessive?

Answer 3

Fabry’s and Hunter’s

Question 4

What is the most common?

Answer 4

Gaucher’s

Question 5

Which diseases are associated with an early death (by age 3)?

Answer 5

Tay Sachs, Neimann Pick, Krabbe’s disease

Question 6

which disease is a demyelinating disease?

Answer 6

metachromatic leukodystrophy

Question 7

Which has corneal clouding and mental retardation?

Answer 7

Hurler’s

Question 8

Which has mental retardation but NO corneal clouding?

Answer 8

Hunter’s

Question 9

Which is corneal clouding but no mental retardation?

Answer 9

Scheie’s

Question 10

Which has alpha-L-iduronidase deficiency?

Answer 10

Hurler’s, Scheie’s

Question 11

What enzyme deficiency is seen in Hunter’s?

Answer 11

Iduronate sulfatase

Question 12

What enzyme deficiency is in Tay Sachs?

Answer 12

Hexosaminidase

Question 13

Which disease has arylsulfatase A deficiency?

Answer 13

metachromatic leukodystrophy

Question 14

Which has alpha-galactosidase A deficiency?

Answer 14

Fabry’s

Question 15

Which has galactocerebrosidase deficiency leading to galactocerebroside accumulation?

Answer 15

Krabbe’s disease

Question 16

What enzyme is deficient in Gauchers?

Answer 16

Beta-glucocerebrosidase –> glucocerebrosidase acumulation

Question 17

What enzyme is deficient in Neimann-Pick’s?

Answer 17

Sphingomyelinase –> sphingomyelin accumulation

Question 18

which is characterized by accumulation of GM2 glangioside?

Answer 18

Tay Sachs

Question 19

Which diseases have accumulation of dermatin sulfate?

Answer 19

Hurler’s, Hunters, Scheie’s

Question 20

Crinkled-paper cytoplasm

Answer 20

Gaucher’s

Question 21

Cherry spot on retina DDx

Answer 21

Neimann pick, Tay Sachs, Central retinal artery occlusion

Question 22

What is I-cell disease?

Answer 22

deficiency in mannose phosphorylation –> no mannose-6 phosphate to target lysosomal proteins –> secretion out of cell instead of into lysosomes