Glycogen storage diseases

Question 1

Type I (name)

Answer 1

Von Gierke Disease

Question 2

Type II (name)

Answer 2

Pompe Disease

Question 3

Type III (name)

Answer 3

Cori Disease

Question 4

Type IV (name)

Answer 4

Anderson Disease

Question 5

Type V (name)

Answer 5

McArdle Disease

Question 6

Type VI (name)

Answer 6

Hers Disease

Question 7

Type VII (name)

Answer 7

Tarui Disease

Question 8

Type VIII (name)

Answer 8

(no name)

Question 9

Type I (deficient enzyme)

Answer 9

Glucose 6-phosphatase

Question 10

Type II (deficient enzyme)

Answer 10

(1,4) α glucosidase (lysosomal acid maltase)

Question 11

Type III (deficient enzyme)

Answer 11

Glycogen debranching enzyme

Question 12

Type IV (deficient enzyme)

Answer 12

Glycogen branching enzyme

Question 13

Type V (deficient enzyme)

Answer 13

Phosphorylase

Question 14

Type VI (deficient enzyme)

Answer 14

Phosphorylase

Question 15

Type VII (deficient enzyme)

Answer 15

PFK-1

Question 16

Type VIII (deficient enzyme)

Answer 16

Phosphorylase B kinase

Question 17

Von Gierke (affected organ)

Answer 17

Liver, kidney

Question 18

Pompe (affected organ)

Answer 18

All organs

Question 19

Cori (affected organ)

Answer 19

Muscle, liver

Question 20

Anderson (affected organ)

Answer 20

Liver, spleen

Question 21

McArdle (affected organ)

Answer 21

Muscle

Question 22

Hers (affected organ)

Answer 22

Liver

Question 23

Tarui (affected organ)

Answer 23

Muscle

Question 24

VIII (affected organ)

Answer 24

Liver

Question 25

Von Gierke (clinical features)

Answer 25

Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis

Question 26

Pompe (clinical features)

Answer 26

Cardiorespiratory failure; death, usually before age 2

Question 27

Cori (clinical features)

Answer 27

Milder type 1:

Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis

Question 28

Anderson (clinical features)

Answer 28

Progressive cirrhosis of liver; liver failure, death before age 2

Question 29

McArdle (clinical features)

Answer 29

Limited ability to perform strenuous exercise; painful muscle cramps

Question 30

Hers (clinical features)

Answer 30

Milder type 1:

Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis

Question 31

Tarui (clinical features)

Answer 31

Like McArdle:

Limited ability to perform strenuous exercise; painful muscle cramps

Question 32

VIII (clinical features)

Answer 32

Mild liver enlargement; mild hypoglycemia

Question 33

Glycogen synthase (defective enzyme)

Answer 33

Decreased glycogen, hypoglycemia, postprandial lactic acidemia, fasting ketosis