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Flashcards in Lysosomal storage disease Deck (19):
1

Which lysosomal storage disease is associated with renal failure

Fabry's disease (treat with dialysis)

2

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

Fabry's and Hunter's
Autosomal recessive.

3

What is the most common lysosomal storage disease?

Gaucher's disease

4

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

Tay Sachs
Niemann Pick
Krabbe's disease

5

Which lysosomal storage disease is a demyelinating disease?

Metachromatic leukodystrophy

6

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

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)

7

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

Hurler's and Scheie's

8

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

Hunter's

9

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

metachromatic leukodystrophy

10

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

Fabry's disease

11

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

Crabie's disease

12

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

Gaucher's disease

13

Which lysosomal storage disease is characterized by a deficiency in hexosaminidase

Tay-Sach's

14

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

Niemann-Pick's disease

15

Characterized by an accumulation of GM2 ganglioside

Tay-Sach's

16

Characterized by an accumulation of dermatin sulfate (3)

Hurler's, Hunter's, Scheie's

17

Which are particularly common among Ashkenazi Jews? (3)

Tay Sach's
Niemann Pick
Gaucher's

18

Which has characteristic "crinkled paper cytoplasm?"

Gaucher's

19

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

Niemann-Pick
Tay-Sachs
Central retinal artery occlusion