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Flashcards in Lysosomal Storage Diseases Deck (23):
1

Deficiency of alpha-galactosidase A

Fabry

2

Fabry disease leads to an accumulation of

ceremide trihexoside

3

What are the only two lysosomal storage diseases that are X-linked recessive?

Fabry disease and Hunter Syndrome (Hunters aim for the X)

4

What is the most common sphingolipidosis?

Gaucher disease

5

Gaucher disease is caused by a deficiency in

glucocerebrosidase

6

In Gaucher disease there is an accumulation of

glucocerebroside

7

What are the symptoms of gaucher disease?

-Hepatosplenomegaly
-Aseptic necrosis of femur
-Gaucher cells (macrophages look like crumpled tissue paper)

8

Progressive neurodegeneration, foam cells and a cherry red spot on the macula?

Neimann-Pick disease

9

Deficiency in Neimann-Pick? Accumulation of?

Deficiency of sphingomyelinase leading to an accumulation of sphingomyelin

10

What is the major diference between the presenation of neimann-pick and Tay-Sachs?

NO HEPATOSPLENOMEGALY in Tay-Sachs

11

Deficiency of Hexosamidase A leads to an accumulation of what substrate?

GM2-Ganglioside

12

Deficiency of galactocerebrosidase leading to a buildup of galactocerebroside

Krabbe disease

13

Sx of Krabbe disease

-peripheral neuropathy
-developmental delay
-Optic atrophy
-Globoid cells

14

Peripheral demyelination with ataxia

metochromatic leukodystrophy

15

Arylsulfatase A deficiency leads to an accumulation of what substrate?

cerebroside sulfate

16

What are the two mucopolysaccharidoses?

Hunter and Hurler syndrome

17

What is the most telling difference between hunter and hurler syndrome?

Hunter syndrome presents with no corneal clouding
Hurler syndrome presents WITH corneal clouding

18

What is deficient in Hurler syndrome?

alpha-L-iduronidase

19

Deficiency of alpha-L-iduronidase leads to an accumulation of what substrate?

Heparan sulfate and dermatan sulfate

20

What are the Sx of hurler syndrome?

Gargoylism
corneal clouding
hepatosplenomegaly

21

What is deficient in hunter syndrome

Iduronate sulfatase
Leads to the buildup of the same as Hunter syndrome--> heparan sulfate and darmatan sulfate

22

Two diseases with cherry red spot on macula?

Tay-Sachs--> No hepatosplenomegaly
Niemann-Pick

23

Corneal clouding- What enzyme is deficient? What builds up?

Hurler syndrome--> Alpha-L-Iduronidase deficiency buildup of Heparan sulfate and dermatan