Glycogen

Question 1

Von gierke disease

• def
• etiology
• sx
• trx

Answer 1

glucose 6 phosphatase

inability to export glucose from liver and kidney leads to hypoglycemia

hyperlipidemia, hyperuricemia, fasting lactic acidosis

frequent feeding with carbs

Question 2

Pompe disease

• def
• etiology
• sx

Answer 2

alpha 1,4 glucosidase (acid maltase)

icnreased glycogen accumulation in lysosome

weakness in muscles and heart problems

Question 3

Cori’s disease

• def
• etiology
• sx

Answer 3

alpha 1,6 glucosidase

STRUCTURAL CHANGE

cant do de branching-shorter branches and impeded glycogenolysis

hepatomegaly and hypoglycemia

Question 4

Andersen’s disease

• def
• etiology
• sx

Answer 4

alpha 4,6 glucosidase

STRUCTURAL CHANGE

unbranched, long insuoluble chains-toxic in liver

hepatomegaly and cirrhosis in liver

Question 5

McArdle’s disease

• def
• etiology
• sx

Answer 5

glyocgen phosphorylase (muscle)

cant breakdown glycogen when in oxygen debt (see problem until beta ox kicks in)

decrased excercise tolerance, muscle cramps, myoglobin uria

Question 6

Her’s disease

• def
• etiology
• sx

Answer 6

glycogen phosphorylase (liver)

cant degrade glycogen in liver

hepatomegaly due to accumulated glyocgen, hypoglycemia
-glucneogenesis is intact-so not that bad as glucose 6 phosphatase def

Question 7

Tauri’s disease

• def
• etiology
• sx

Answer 7

Muscle phosphofructokinase
-normally allows fro converting Fructose 6 P into fructose 1,6 bisP so that it can be split it glyceraldehyde 3P so can do glycolysis

-cant do glycolysis

reduced excercise tolerance, myoglobinuria, hemolytic anemia

Question 8

all diseasesthat dont change glycogen structure…

Answer 8

result in increase of glycogen