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Flashcards in Lysosomal Storage Diseases Deck (11):
1

What is the enzyme that is deficient, and what is the substance the is built up with: Fabry disease

alpha-galactosidase
Ceramide trihexoside

2

What is the enzyme that is deficient, and what is the substance the is built up with: Gaucher's disease?

Glucocerebrosidase
Glucocerebroside

3

What is the enzyme that is deficient, and what is the substance the is built up with: Niemann-Pick disease

Sphingomyelinase
Sphingomyelin

4

What is the enzyme that is deficient, and what is the substance the is built up with: Tay-Sachs disease

Hexosaminidase
GM2 ganglioside

5

What is the enzyme that is deficient, and what is the substance the is built up with: Krabbe disease

Galactocerebrosidase
galactocerebroside

6

What is the classic triad for fabry's disease?

-Episodic peripheral neuropathy
-Angiokeratomas
-Hypohidrosis

7

What are the classic s/sx of Gaucher's disease?

-HSM
-Pancytopenia
-Osteoporosis
-*(Bone marrow issues)*

8

What are the classic s/sx of Niemann-Pick's disease? (3)

-Progressive neurodegeneration
-HSM
-Cherry red spot on the macula

9

What are the classic s/sx of tay-Sach's disease?

-Progressive neurodegeneration
-Cherry red spot on macula
-Lysosomes with onion skin

10

Both Tay-Sach's disease and Niemann-Pick's disease present with neurodegeneration, and a cherry red spot on the macula. How can you differentiate the two?

NP does not have HSM, and has onion skin macrophages

TS = HSM + Lipid laden macrophage

11

What is the enzyme that is deficient, and what is the substance the is built up with: metachromatic leukodystrophy?

Arylsulfatase A
Cerebro Sulfate