Glycogen Storage Disease - IMPORTANT SLIDE

Question 1

What is another name for Type I glycogen storage disease?

Answer 1

Von Gierke Disease

Question 2

What is another name for Type II glycogen storage disease?

Answer 2

Pompe Disease

Question 3

What is another name for type III glycogen storage disease?

Answer 3

Cori Disease

Question 4

What is another name for type IV glycogen storage disease?

Answer 4

Anderson Disease

Question 5

What is another name for type V glycogen storage disease?

Answer 5

McArdle Disease

Question 6

What is another name for type VI glycogen storage disease?

Answer 6

Hers Disease

Question 7

What is another name for type VII glycogen storage disease?

Answer 7

Tarui Disease

Question 8

What is another name for type VIII glycogen storage disease?

Answer 8

There is no name for it

Question 9

What glycogen storage diseases affect the liver?

Answer 9

All except for 5 and 7

Question 10

What is the defective enzyme in type 0 glycogen storage disease?

Answer 10

Glycogen synthase

Question 11

What is the defective enzyme in type 1 glycogen storage disease?

Answer 11

Glucose-6-phosphatase

Question 12

What is the defective enzyme in type II glycogen storage disease?

Answer 12

1,4, alpha glucosidase (lysosomal)

Question 13

What is the defective enzyme in type III glycogen storage disease?

Answer 13

Glycogen debranching enzyme

Question 14

What is the defective enzyme in type IV glycogen storage disease?

Answer 14

Glycogen branching enzyme

Question 15

What is the defective enzyme in type V glycogen storage disease?

Answer 15

Phosphorylase

Question 16

What is the defective enzyme in type VI glycogen storage disease?

Answer 16

Phosphorylase

Question 17

What is the defective enzyme in type VII glycogen storage disease?

Answer 17

PFK-1

Question 18

What is the defective enzyme in type VIII glycogen storage disease?

Answer 18

Phosphorylase b kinase

Question 19

Which glycogen storage diseases affect the muscle?

Answer 19

3, 5, 7

Question 20

What glycogen storage disease affects every organ?

Answer 20

Type II, Pompe’s disease

Question 21

What is the only glycogen storage disorder that leads to a decrease in glycogen?

Answer 21

Type 0- a defect in glycogen synthase

Question 22

What organ/s does glycogen synthase deficiency affect?

Answer 22

The liver

Question 23

What organ/s is affected by type I disease?

Answer 23

Liver and kidney

Question 24

What organ/s is affected by type II disease?

Answer 24

All organs

Question 25

What organ/s is affected by type III disease?

Answer 25

Muscle and liver

Question 26

What organ/s is affected by type IV disease?

Answer 26

Liver and spleen

Question 27

What organ/s is affected by type V disease?

Answer 27

Muscle

Question 28

What organ/s is affected by type VI disease?

Answer 28

Liver

Question 29

What organ/s is affected by type VII disease?

Answer 29

Muscle

Question 30

What organ/s is affected by type VIII disease?

Answer 30

Liver

Question 31

Which types lead to death, usually before age 2?

Answer 31

Type 2 and type 4

Question 32

What are the clinical features of type 0 glycogen storage disease?

Answer 32

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

Question 33

What are the clinical features of type I glycogen storage disease?

Answer 33

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)

Question 34

What are the clinical features associated with type II glycogen storage disease?

Answer 34

cardiorespiratory failure and death before age 2

Question 35

What are the clinical features associated with type III glycogen storage disease?

Answer 35

Like type 1, but milder. You can only break down and use some of the glycogen

Question 36

What are the clinical features associated with type IV glycogen storage disease?

Answer 36

Liver failure --> death

Question 37

What are the clinical features associated with type V glycogen storage disease?

Answer 37

limited ability to perform exercise, due to painful cramps. This affects muscle only- liver is still able to maintain normal blood glucose levels

Question 38

What are the clinical features associated with type VI glycogen storage disease?

Answer 38

Like 1, but milder

Question 39

What are the clinical features associated with type VII glycogen storage disorder?

Answer 39

Like 5. Affects the muscle, therefore inability to use glycogen to produce ATP

Question 40

What are the clinical features associated with type VIII glycogen storage disorder?

Answer 40

Mild liver enlargement and mild hypoglycemia Affects liver. Mild because phosphorylase b can be activated to phosphorylase a via allosteric regulation