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Flashcards in Glycogen Storage Diseases Deck (18):
1

Describe Glycogen Storage diseases

12 types; all resulting in abnormal glycogen metabolism and an accumulation of glycogen within cells.

2

mneumonic for glycogen storage diseases

Very Poor Carbohydrate Metabolism

3

Von Gierke Disease (TYPE 1) clinical findings

1) Severe fasting hypoglycemia 2) increased glycogen in liver 3) increased blood lactate 4) hepatomegaly

4

What enzyme is deficient in Von Gierke Disease (Type 1)

Glucose-6-phosphatase

5

What is the inheritance of Von Gierke Disease?

Autosomal Recessive

6

What is the treatment of Von Gierke Disease?

Frequent oral glucose/cornstarch; avoidance of fructose and galactose

7

What are the clinical findings of Pompe Disease (Type II)

Cardiomyopathy and systemic findings leading to early death

8

What enzyme is deficient in Pompe Disease (Type II)

Lysosomal alpha 1,4 glucosidase (acid maltase)

9

What is the inheritance of Pompe Disease (Type II)

Autosomal Recessive

10

What (3) organs does Pompe affect?

1) heart, liver, muscle

11

What are the clinical findings in Cori disease (Type III)

Milder form of type I with normal blood lactate levels

12

What enzyme is deficient in Cori disease (type III)

debranching enzyme (alpha-1,6-glucosidase)

13

What is the inheritance of Cori disease?

Autosomal Recessive

14

Is gluconeogensis intact in Cori disease?

Yes

15

What are the findings in McArdle disease?

increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, and arrhythmia from electrolyte abnormalities

16

What enzyme is deficient in McArdle disease?

Skeletal muscle glycogen phosphorylase (myophosphorylase)

17

What is the inheritance of McArdle disease?

Autosomal Recessive

18

What organ does McArdle affect?

(M)cArdle = Muscle