1. Glycogen Storage Diseases

2. Type I Name? VON GIERKE’S DISEASE Symptoms? Enzyme Def?
Severe fasting hypoglycemia, way increased liver glycogen, increased blood lactate, hepatomegaly
Glucose-6-Phosphatase (If you don’t dephosphorylate glucose, cells cant release it!)

3. Type V Name? McARDLE’S DISEASE Symptoms? Enzyme Def?
Increased muscle glycogen, but can’t break it down! Severe muscle cramps (decreased ATP), myoglobinuria.
Skeletal Muscle glycogen phosphorylase

4. Type 0 Name? N/A Symptoms? Enzyme Def?
Hypoglycemia, increased ketones, decreased growth, early death
Liver glycogen synthase

5. Type IV Name? ANDERSEN’S DISEASE Symptoms? Enzyme Def?
Cirrhosis, Liver Failure, Ascites
Branching Enzyme

6. Type II Name? POMPE’S DISEASE Symptoms? Enzyme Def?
Cardiomegaly, liver, muscle probs.
Lysosomal alpha 1,4 glucosidase (acid maltase)

7. Type VI Name? HER SYNROME Symptoms? Enzyme Def?
Hepatomegaly, mild hypoglycemia.
Liver phosphorylase
Good prognosis!

8. Type X
Name?
N/A
Symptoms?
Enzyme Def?
hepatomegaly
pKa liver

9. Type IX Name? N/A Symptoms? Enzyme Def?
Hepatomegaly, mild hypoglycemia
Phosphorylase kinase

10. Type VII Name? TAURI SYNDROME Symptoms? Enzyme Def?
Symptoms similar to McArdle’s: muscle cramps and myoglobinuria
Phosphofructokinase 1 (no conversion of fructose-6-P to fructose 1,6, P for glycolysis.