Glycogen Storage Disease - IMPORTANT SLIDE Flashcards
What is another name for Type I glycogen storage disease?
Von Gierke Disease
What is another name for Type II glycogen storage disease?
Pompe Disease
What is another name for type III glycogen storage disease?
Cori Disease
What is another name for type IV glycogen storage disease?
Anderson Disease
What is another name for type V glycogen storage disease?
McArdle Disease
What is another name for type VI glycogen storage disease?
Hers Disease
What is another name for type VII glycogen storage disease?
Tarui Disease
What is another name for type VIII glycogen storage disease?
There is no name for it
What glycogen storage diseases affect the liver?
All except for 5 and 7
What is the defective enzyme in type 0 glycogen storage disease?
Glycogen synthase
What is the defective enzyme in type 1 glycogen storage disease?
Glucose-6-phosphatase
What is the defective enzyme in type II glycogen storage disease?
1,4, alpha glucosidase (lysosomal)
What is the defective enzyme in type III glycogen storage disease?
Glycogen debranching enzyme
What is the defective enzyme in type IV glycogen storage disease?
Glycogen branching enzyme
What is the defective enzyme in type V glycogen storage disease?
Phosphorylase
What is the defective enzyme in type VI glycogen storage disease?
Phosphorylase
What is the defective enzyme in type VII glycogen storage disease?
PFK-1
What is the defective enzyme in type VIII glycogen storage disease?
Phosphorylase b kinase
Which glycogen storage diseases affect the muscle?
3, 5, 7
What glycogen storage disease affects every organ?
Type II, Pompe’s disease
What is the only glycogen storage disorder that leads to a decrease in glycogen?
Type 0- a defect in glycogen synthase
What organ/s does glycogen synthase deficiency affect?
The liver
What organ/s is affected by type I disease?
Liver and kidney
What organ/s is affected by type II disease?
All organs
What organ/s is affected by type III disease?
Muscle and liver
What organ/s is affected by type IV disease?
Liver and spleen
What organ/s is affected by type V disease?
Muscle
What organ/s is affected by type VI disease?
Liver
What organ/s is affected by type VII disease?
Muscle
What organ/s is affected by type VIII disease?
Liver
Which types lead to death, usually before age 2?
Type 2 and type 4
What are the clinical features of type 0 glycogen storage disease?
Hypoglycemia, postprandial lactic acidemia, fasting ketosis
Problems associated with the fact that you can’t store glucose as glycogen, so you don’t have stores to pull from in the liver when you’re fasting
What are the clinical features of type I glycogen storage disease?
Enlarged liver, failure to thrive, severe hypoglycemia, gouty arthritics,, hyperlipidemia, mental retardation, lactic acidosis
You can break down glycogen, but you can’t get it to a usable form (glucose)
What are the clinical features associated with type II glycogen storage disease?
cardiorespiratory failure and death before age 2
What are the clinical features associated with type III glycogen storage disease?
Like type 1, but milder.
You can only break down and use some of the glycogen
What are the clinical features associated with type IV glycogen storage disease?
Liver failure –> death
What are the clinical features associated with type V glycogen storage disease?
limited ability to perform exercise, due to painful cramps.
This affects muscle only- liver is still able to maintain normal blood glucose levels
What are the clinical features associated with type VI glycogen storage disease?
Like 1, but milder
What are the clinical features associated with type VII glycogen storage disorder?
Like 5.
Affects the muscle, therefore inability to use glycogen to produce ATP
What are the clinical features associated with type VIII glycogen storage disorder?
Mild liver enlargement and mild hypoglycemia
Affects liver. Mild because phosphorylase b can be activated to phosphorylase a via allosteric regulation
