Glycogen Storage Disease - IMPORTANT SLIDE Flashcards Preview

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Flashcards in Glycogen Storage Disease - IMPORTANT SLIDE Deck (40):
1

What is another name for Type I glycogen storage disease?

Von Gierke Disease

2

What is another name for Type II glycogen storage disease?

Pompe Disease

3

What is another name for type III glycogen storage disease?

Cori Disease

4

What is another name for type IV glycogen storage disease?

Anderson Disease

5

What is another name for type V glycogen storage disease?

McArdle Disease

6

What is another name for type VI glycogen storage disease?

Hers Disease

7

What is another name for type VII glycogen storage disease?

Tarui Disease

8

What is another name for type VIII glycogen storage disease?

There is no name for it

9

What glycogen storage diseases affect the liver?

All except for 5 and 7

10

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

Glycogen synthase

11

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

Glucose-6-phosphatase

12

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

1,4, alpha glucosidase (lysosomal)

13

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

Glycogen debranching enzyme

14

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

Glycogen branching enzyme

15

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

Phosphorylase

16

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

Phosphorylase

17

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

PFK-1

18

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

Phosphorylase b kinase

19

Which glycogen storage diseases affect the muscle?

3, 5, 7

20

What glycogen storage disease affects every organ?

Type II, Pompe's disease

21

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

Type 0- a defect in glycogen synthase

22

What organ/s does glycogen synthase deficiency affect?

The liver

23

What organ/s is affected by type I disease?

Liver and kidney

24

What organ/s is affected by type II disease?

All organs

25

What organ/s is affected by type III disease?

Muscle and liver

26

What organ/s is affected by type IV disease?

Liver and spleen

27

What organ/s is affected by type V disease?

Muscle

28

What organ/s is affected by type VI disease?

Liver

29

What organ/s is affected by type VII disease?

Muscle

30

What organ/s is affected by type VIII disease?

Liver

31

Which types lead to death, usually before age 2?

Type 2 and type 4

32

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

33

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)

34

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

cardiorespiratory failure and death before age 2

35

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

36

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

Liver failure --> death

37

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

38

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

Like 1, but milder

39

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

40

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