Glycogen storage diseases Flashcards
To learn the glycogen storage diseases
1
Q
what is Type 1 and whats the deficiency?
A
Von Gierke’s disease
1a- deficiency of glucose-6-phosphatase
1b deficiency of ER g-6-phosphate transporter
2
Q
what is Type 2 and whats the deficiency?
A
pompei’s disease
deficiency of lysosomal maltase
3
Q
what is Type 3 and whats the deficiency?
A
Limitdextrimos/ Cori’s disease
deficiency of debranching enzyme
4
Q
what is Type 4 and whats the deficiency?
A
anderson’s disease
defiency of branching enzyme
5
Q
what is Type 5 and whats the deficiency?
A
mcArdle’s disease
deficiency of muscle glycogen phosphorylase
6
Q
what is Type 6 and whats the deficiency?
A
Hers’ disease
deficiency of liver glycogen phosphorylase
