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Flashcards in glycogen storage disease Deck (20):
1

what is the Rate limiting enzyme for glycogen synthesis?

glycogen synthase

 

2

whats the rate limiting enzyme for glycogenolysis 

glycogen phosphorylase

3

 which enzyme turns

glucose -6- phosphate --> glucose

Q image thumb

Glucose-6- phosphatase

4

which glycogen storage disease?

glycogen phosphorylase

deficiency

McArdle disease

5

which glycogen storage disease?

Glucose-6-phosphatase 

dificiency

Von Gierke Disease

6

which glycogen storage disease?

Lactic acidosis

Hyperlipidemia

Hyperuricemia (gout)

Von Gierke disease

7

which glycogen storage disease?

a- 1,6- glucosidase 

(debranching enzyme)

deficiency

Cori Disease

8

which glycogen storage disease?

a-1,4-glucosidase 

(lysosomal acid a-1,4-glucosidase)

deficiency

 

Uworld: Acid a-glucosidase

Pompe disease

9

which glycogen storage disease?

cardiomegaly

(hypertrophic cardiomyopathy)

Pompe disease

(infantile type)

10

which glycogen storage disease?

Diaphragm weakness leading to respiratory failure

pomple disease

(adult type)

11

which glycogen storage disease?

Increased glycogen in  liver

severe fasting HYPOglycemia

Von gierke disease

12

which glycogen storage disease?

hepatomegaly

hypoglycemia

hyperlipidemia

(NORMAL kidneys,

Normal lactate,

Normal Uric acid)

MUSCLE WEAKNESS / HYPOTONIA

Cori disease

13

which glycogen storage disease?

Painful muscle Cramps

myoglobinuria w/ strenuous exercise

McArdle Disease

14

Severe hepatosplenomegaly

Enlarged kidneys

Normal muscles

 

Von Gierke disease

 

normal muscles in contrast to

CORI disease (muscle weakness, hypotonia)

15

which glycogen storage disease?

accumulation of 

limit dextrin like structures in cytosol

cori disease

 

 

16

which glycogen storage disease?

effects 

heart

liver

muscle

pompe disease

17

cardiomegaly

hypotonia

exercise intolerance

inc LDH, inc CK

accumulate glycogen in LYSOSOMES

POMPE 

18

which glycogen storage disease?

accumulate glycogen in lysosomes

enlarged muscles (tongue - macroglossia, enlarged liver)

pompe disease (type II) 

19

treatment of Von Gierke

frequent oral glucose/cornstarch at night

 

*** AVOIDANCE of 

Frucrtose, Galactose, sucrose, lactose. 

bc impaired gluconeogenesis and glycogenolysis

20

treatment for pt that develops extensive muscle cramps and darkening of her urine after excerise.

Labs show inc CK, myoglobin

Oral ingestin of Sucrose