GLycogen storage diseases Flashcards
1
Q
type 1
A
- glucose 6 phosphotase
- liver and kidney
- increased amount of normal glycogen
- severe hypoglycemia
- hepatomegaly
- Von Gierkes
2
Q
type 2
A
- pompe
- alpha 1,4 glucosidase
- lysosomal
- effects the whole body
- large increase in normal structure glycogen
- cardiorespiratory failure
3
Q
type 3
A
- cori
- debranching enzym
- left with dextrins
- muscle/liver
- increased amount of short outer branches
- like type 1 but milder
4
Q
type 4
A
- andersen
- branching enzyme
- liver
- normal amount, long outer branches
- hepatomegaly, fatal
5
Q
type 5
A
- mcArdle
- phosphorylase
- muscle
- increased amount of normal structure
- exercise problems
- cramps
6
Q
type 6
A
- hers
- phosphorylase
- liver
- increased amount of normal structure
- like type 1, milder
7
Q
type 7
A
- tauris
- PFK1
- muscle
- increased amount, normal structure
- like type 5 (exercise problems, cramps)
