Glycogen Storage Diseases

So there are these diseases that occur when a person has an issue with their glycogen metabolism. Because they can't process the glycogen it accumulates to toxic levels. There are a bunch but we only need to remember 4.

Type 1 = Von Gierke's

Type 2 = Pompe's

Type 3 = Cori's

Type 5 = McArdle's 

1 and 3 both present with severe hypoglycemia. Type 3 is really a mild version of Type 1 

Type 1 = Von Gierke's = The G in Gierke's reminds me of the deficient enzyme = Glucose-6-phosphatase. The glycogen builds up in the liver giving the patient hepatomegaly and a protruding belly. Severe hypoglycemia usually manifests with seizures. 

Here is how I remember Type 2: When I think of Pompe it makes me think of pompus or megalamaniac which makes me think of cardiomegaly. In Type 2 the deficient enzyme is Lysosomal alpha-1-4-glucosidase (acid maltase) and you get glycogen build up in the heart. Some like to think of Pompe as a pump as in the heart. 

Type 3 or Cori's reminder =  Amy who is 16 knocked Cori off the tree branch.

Enzyme Deficiency = Debranching Enzyme = amylo-1,6-glucosidase. Type 3 is a milder version of Type 1. Gluconeogenesis is still functioning 

Type 5 or McArdle's = M in McArdle's makes me think of Muscle. Type 5 lacks the enzyme muscle glycogen phosphorylase so the patient gets glycogen build up in the muscles and gets horrible muscle cramps.