Glycogen Storage Diseases Flashcards
GSD I - name?
Von Gierke Disease
GSD I - deficiency enzyme?
Glucose 6-Phosphatase
GSD I - affected organs?
Liver and kidney
GSD II - name?
Pompe Disease
GSD II - deficiency enzyme?
(1,4) alpha-glucosidase
GSD II - affected organs?
All
GSD III - name?
Cori Disease
GSD III - deficiency enzyme?
Glycogen debranching enzyme
GSD III - affected organs?
Muscle and liver
GSD IV - name?
Anderson Disease
GSD IV - deficiency enzyme?
Glycogen branching enzyme
GSD IV - affected organs?
Liver and spleen
GSD V - name?
McArdle Disease
GSD V - deficiency enzyme?
Phosphorylase
GSD V - affected organs?
Muscle
GSD VI - name?
Hers Disease
GSD VI - deficiency enzyme?
Phosphorylase
GSD VI - affected organs?
Liver
GSD VII - name?
Tarui Disease
GSD VII - deficiency enzyme
PFK-1
GSD VII - affected organs?
Muscle
GSD VIII - deficiency enzyme?
Phosphorylase b Kinase
GSD VIII - affected organs?
Liver
GSD I, III, VI symptoms
Enlarged liver, failure to trhive, severe hypoglycemia, hyperuricemia, gouty arthritis, hyperlipidemia, mental retardation, lactic acidosis (severe in I, mild in III and VI)
GSD II symptoms
Cardiorespiratory failure, death before age 2
GSD IV symptoms
Progressive cirrhosis of the liver, death before age 2
GSD V and VII symptoms
Limited ability to exercise, painful muscle cramps
GSD VIII symptoms
Mild liver enlargement, mild hypoglycemia
