Glycogen Metabolism & Glycogen Storage Diseases Flashcards Preview

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Flashcards in Glycogen Metabolism & Glycogen Storage Diseases Deck (17):
1

rate limiting enzyme for glycogen synthesis

glycogen synthase

2

rate limiting enzyme for glycogenolysis

glycogen phosphorylase

3

what promotes breakdown of glycogen in liver? in muscle?

liver--> glucagon and epinephrine
muscle--> epinephrine

4

how does glucagon or epi signal for glycogen to be broken down

increases cAMP---> protein kinase A--> phosphorylates glycogen phosphorylase, rendering it active--> glycogenolysis

5

what signals glycogen phosphorylase to turn off

insulin --> activates receptor tyrosine kinase--> activates protein phosphatase--> dephospharylate glycogen synthase, rendering it inactive

6

what activates glycogen phosphorylase in muscle tissue to coordinate glycogenolysis with muscle activity

Ca2+/ calmodulin--> also phosphorylates glycogen phosphorylase

7

glycogen phosphorylase deficiency

McArdles disease (type V)

8

glucose-6-phosphatase deficiency

Von gierke's disease (type 1)

9

lactic acidosis, hyperlipidemia, hyperuricemia (gout)

Von Gierke's disease (type 1)

10

alpha- 1,6 glucosidase deficiency (branching enzyme)

Cori's disease (type III)

11

alpha 1,4 glucosidase deficiency

Pompe's disease (type II)

*is a lysosomal enzyme!!

12

Cardiomegaly

Pompe's disease, infantile type

13

Diaphragm disease leading to respiratory failure, gradal muscle weakess

Pompe's disease, adult type

14

Increased glycogen in liver (hepatomegaly), severe fasting hypoglycemia, increases lactic acid levels

Von Gierke's disease

15

hepatomegaly, hypoglycemia, hyperlipidemia, normal lactic acid levels. enzyme?

Cori's disease (type III)

* alpha 1, 6 glucosidase (debranching enzyme)

16

painful muscle cramps, myoglobinuria with strenous exercise. enzyme?

McArdle's disease (type V)

*can lead to renal failure
*glycogen phosphorylase in skeletal muscle

17

severe hepatosplenomegaly, enlarged kidneys. enzyme?

Von Gierke's (type I)

*glucose-6-phosphatase deficiency

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