Glycogen Storage Disease

Question 1

all glycogen storage diseases are

Answer 1

AR

Question 2

G6Phosphatase deficient

Answer 2

Von Gierke (1)

Question 3

Deficiency of acid α-glucosidase (acid maltase), an enzyme responsible for breaking down glycogen within the acidic environment of lysosomes.

Lysosomal alpha 1,6 glucosidase deficiency

Answer 3

Pompe (2)

Lysosomal alpha 1,4
with
alpha 1,6 glucosidase deficiency

Question 4

Debranching enzyme deficiency:
alpha 1,6 Glocosidase &
alpha 1,4 Transferase

Answer 4

Cori (3)

Question 5

Myophosphorylase deficient

Answer 5

McArdle (5)

Question 6

muscle cramps and myoglobinuria (red pee) during exercise

Answer 6

McArdle (5)

Question 7

Severe hypoglycemia if fasting

Answer 7

Von Gierke (1)

Question 8

Cardiomegaly, hypotonia, can’t exercise well

Answer 8

Pompe (2)

Question 9

normal blood lactate, hypoglycemia if fasting, can lead to cardiomyopathy

Answer 9

Cori (3)

Question 10

Impaired gluconeogenesis and glycogenolysis

Answer 10

Von Gierke (1)

Question 11

Gluconeogenesis intact. Limit Dextrin cytoplasmic accumulations

Answer 11

Cori (3)

Question 12

Blood glucose levels normal, increase glycogen in muscle. Arrythmias.

Answer 12

McArdle (5)

Question 13

High levels of glycogen in the liver and kidneys.

Increased blood Lactate, TG, Uric acid

Answer 13

Von Gierke (1)

Question 14

Second wind phenomenon during exercise due to better blood flow

Answer 14

McArdle (5)

Question 15

Hepatomegaly and Renomegaly

Answer 15

Von Gierke (1)

Question 16

The classic form of the disease presents in early infancy with marked cardiomegaly, severe generalized hypotonia, macroglossia, and hepatomegaly

Answer 16

Pompe (2)

Question 17

A key distinguishing feature is that muscle biopsy will show accumulation of glycogen in lysosomes.

Answer 17

Pompe (2)

Question 18

Ketotic Hypoglycemia

Answer 18

Cori (3)