Lysosomal Storage Diseases Flashcards
1
Q
Enzyme deficiency?
- Hunter’s
A
Iduronate sulfatase
2
Q
Enzyme deficiency?
- Alpha-glucosidase
A
Pompe’s
3
Q
Deficiency in this causes what disease?
- Beta-glucosidase (glucocerebrosidase)
A
Gaucher’s Type 1
4
Q
Enzyme deficiency?
- Tay Sachs
A
Beta-hexosaminidase A
5
Q
Deficiency in this causes what disease?
- Beta-hexosaminidase A
A
Tay Sachs
6
Q
Deficiency in this causes what disease?
- Alpha- iduronidase
A
Hurler’s
7
Q
Deficiency in this causes what disease?
- Alpha-galactosidase
A
Fabry’s
8
Q
Enzyme deficiency?
- Pompe’s
A
Alpha-glucosidase
9
Q
Which LSD has cardiomegaly?
A
Pompe’s
10
Q
Enzyme deficiency?
- Gaucher’s Type 1
A
Beta-glucosidase (glucocerebrosidase)
11
Q
Which of the LSDs can present in adulthood?
A
- Goucher’s
- Fabry’s
- Pompe’s
12
Q
Enzyme deficiency?
- Fabry’s
A
Alpha-galactosidase
13
Q
In which LSDs are there ERTs avail.?
A
all EXCEPT Tay Sachs
14
Q
Deficiency in this causes what disease?
- Iduronate sulfatase
A
Hunter’s
15
Q
Which LSDs do NOT have an auto-recessive inheritance?
A
Fabry’s and Hunter’s
