Glycogen Storage Diseases Flashcards Preview

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Flashcards in Glycogen Storage Diseases Deck (20):
1

GSD 0: aka

No name

2

GSD 0

Cause?

Deficiency in glycogen synthase

3

GSD 0

Biochemical consequence

Patients unable to synthesize glycogen | rely on glucose

4

GSD 0

Biological consequences

Sxs: Hypoglycemia when fasting, muscle craps b/v lack of glycogen

Tx: eat frequently

5

GSD II: aka

Pompe DIsease

6

GSD II

Cause?

Deficiency in acid maltase

7

GSD II

Biochemical consequence

Lysosomal degradation affected --> accumulation of glycogen in the lysosome --> muscle and liver cells are affected

8

GSD II

Biological consequence?

Sxs: muscle weakness and myopathy, children die of heart failure

Tx: Enxyme replacement therapy of human alpha-glucosidase via IV

9

GSD IV: aka?

Anderson Disease

10

GSD IV:

Cause?

Deficiency in glucosyl (4:6) transferase

11

GSD IV:

Biochemical consequence?

Branching enzyme deficiency --> long chain glycogen with few branches

12

GSD IV:

Biological consequence?

Sxs: hepatomegaly, splenomegaly and cirrhosis

*usually dead by 5

13

GSD V: aka?

McArdle Disease

14

GSD V:

cause?

Deficiency in muscle glycogen phosphorylase

15

GSD V:

Biochemical consequence?

Blocks rate limiting step of glycogen breakdown --> muscles NOT enough glucose

16

GSD V:

Biological consequence?

Sxs: EXERCISE INTOLERANCE (dead muscles)

17

GSD VI: aka?

Hers disease

18

GSD VI: cause?

Deficiency in liver glycogen phosphorylase

19

GSD VI:

Biochemical consequence

Blocks glycogen breakdown in the liver --> accumulates in the liver --> hepatomegaly

20

GSD VI:

Biological consequence?

Sxs: low blood glucose levels