Lysosomal storage disease

Question 1

Which lysosomal storage disease is associated with renal failure

Answer 1

Fabry’s disease (treat with dialysis)

Question 2

What are the only two X-linked recessive lysosomal storage diseases? What is the method of inheritance of the others?

Answer 2

Fabry’s and Hunter’s

Autosomal recessive.

Question 3

What is the most common lysosomal storage disease?

Answer 3

Gaucher’s disease

Question 4

Which 3 lysosomal storage diseases are associated with an early death (usually by age 3)

Answer 4

Tay Sachs
Niemann Pick
Krabbe’s disease

Question 5

Which lysosomal storage disease is a demyelinating disease?

Answer 5

Metachromatic leukodystrophy

Question 6

How might corneal clouding and mental retardation help distinguish between the mucopolysaccharidases?
Hurler's
Hunter's
Scheie's
(I-cell)

Answer 6

Hurler’s: corneal clouding and retardation
Hunter’s: retardation only
Scheie’s: corneal clouding only
(I-cell): clouding, with or without retardation (deficiency in mannose phosphorylation; death by age 6)

Question 7

Which lysosomal storage disease is characterized by a deficiency in alpha-L-iduronidase

Answer 7

Hurler’s and Scheie’s

Question 8

Which lysosomal storage disease is characterized by a deficiency in iduronate sulfatase

Answer 8

Hunter’s

Question 9

Which lysosomal storage disease is characterized by a deficiency in arylsulfatase A

Answer 9

metachromatic leukodystrophy

Question 10

Which lysosomal storage disease is characterized by a deficiency in alpha-galactosidase A

Answer 10

Fabry’s disease

Question 11

Which lysosomal storage disease is characterized by a deficiency in Galactocerebrosidase (leading to galactocerebroside accumulation)

Answer 11

Crabie’s disease

Question 12

Which lysosomal storage disease is characterized by a deficiency in beta-glucocerebrosidase (leading to glucocerebroside accumulation)

Answer 12

Gaucher’s disease

Question 13

Which lysosomal storage disease is characterized by a deficiency in hexosaminidase

Answer 13

Tay-Sach’s

Question 14

Which lysosomal storage disease is characterized by a deficiency in sphingomyelinase (leading to sphingomyelin accumulation)

Answer 14

Niemann-Pick’s disease

Question 15

Characterized by an accumulation of GM2 ganglioside

Answer 15

Tay-Sach’s

Question 16

Characterized by an accumulation of dermatin sulfate (3)

Answer 16

Hurler’s, Hunter’s, Scheie’s

Question 17

Which are particularly common among Ashkenazi Jews? (3)

Answer 17

Tay Sach’s
Niemann Pick
Gaucher’s

Question 18

Which has characteristic “crinkled paper cytoplasm?”

Answer 18

Gaucher’s

Question 19

What is the ddx for a cherry-red spot on the retina? (3)

Answer 19

Niemann-Pick
Tay-Sachs
Central retinal artery occlusion