4.2 GLYCOGEN STORAGE DISEASES

Question 1

What is the enzyme deficiency in GSD I (Von Gierke Disease)?

Answer 1

Glucose-6-phosphatase.

Question 2

What are the key clinical features of GSD I?

Answer 2

Severe hypoglycemia, lactic acidosis, hepatomegaly, hypertriglyceridemia, hyperuricemia.

Question 3

What is the treatment for GSD I (Von Gierke Disease)?

Answer 3

Uncooked cornstarch, frequent feedings, liver/kidney transplant.

Question 4

What is the enzyme deficiency in GSD II (Pompe Disease)?

Answer 4

Lysosomal acid alpha-glucosidase.

Question 5

What are the key clinical features of GSD II?

Answer 5

Cardiomyopathy in infancy, skeletal myopathy in juvenile/adult forms, muscle weakness.

Question 6

What is the treatment for GSD II (Pompe Disease)?

Answer 6

Enzyme replacement therapy (alglucosidase alfa), heart transplant for cardiomyopathy.

Question 7

What is the enzyme deficiency in GSD III (Cori/Forbes Disease)?

Answer 7

Debrancher enzyme (amyloglucosidase).

Question 8

What are the key clinical features of GSD III?

Answer 8

Hepatomegaly, muscle weakness, hypoglycemia

Question 9

What is the treatment for GSD III (Cori/Forbes Disease)?

Answer 9

Uncooked cornstarch, high-protein diet.

Question 10

What is the enzyme deficiency in GSD IV (Andersen Disease)?

Answer 10

Branching enzyme.

Question 11

What are the key clinical features of GSD IV?

Answer 11

Progressive cirrhosis, hepatomegaly, muscle atrophy (neuromuscular form).

Question 12

What is the treatment for GSD IV (Andersen Disease)?

Answer 12

Liver transplantation.

Question 13

What is the enzyme deficiency in GSD V (McArdle Disease)?

Answer 13

Muscle phosphorylase

Question 14

What are the key clinical features of GSD V?

Answer 14

Exercise intolerance, muscle cramps, rhabdomyolysis.

Question 15

What is the treatment for GSD V (McArdle Disease)?

Answer 15

Carbohydrate administration before exercise.

Question 16

What is the enzyme deficiency in GSD VI (Hers Disease)?

Answer 16

Liver phosphorylase

Question 17

What are the key clinical features of GSD VI?

Answer 17

Hypoglycemia, hyperlipidemia, hepatomegaly.

Question 18

What is the treatment for GSD VI (Hers Disease)?

Answer 18

Uncooked cornstarch.

Question 19

What is the enzyme deficiency in GSD VII (Tarui Disease)?

Answer 19

Phosphofructokinase

Question 20

What are the key clinical features of GSD VII?

Answer 20

Muscle cramps, rhabdomyolysis, hemolysis.

Question 21

What is the treatment for GSD VII (Tarui Disease)?

Answer 21

Avoid excessive exercise.

Question 22

What is the enzyme deficiency in GSD 0?

Answer 22

Glycogen synthase.

Question 23

What are the key clinical features of GSD 0?

Answer 23

Fasting hypoglycemia, ketosis, postprandial lactic acidosis.

Question 24

What is the treatment for GSD 0?

Answer 24

Frequent protein-rich meals, uncooked cornstarch at bedtime.

Question 25

What is the enzyme deficiency in Fanconi-Bickel Syndrome?

Answer 25

Glucose transporter-2.

Question 26

What are the key clinical features of Fanconi-Bickel Syndrome?

Answer 26

Hepatomegaly, renal Fanconi syndrome, fasting hypoglycemia.

Question 27

What is the treatment for Fanconi-Bickel Syndrome?

Answer 27

Low-carbohydrate, high-protein diet, electrolyte replacement.

Question 28

What is the enzyme deficiency in Fructose 1,6-Bisphosphatase Deficiency?

Answer 28

Fructose 1,6-bisphosphatase.

Question 29

What are the key clinical features of Fructose 1,6-Bisphosphatase Deficiency?

Answer 29

Hypoglycemia, lactic acidosis, ketosis.

Question 30

What is the treatment for Fructose 1,6-Bisphosphatase Deficiency?

Answer 30

Avoid fasting and fructose-containing foods.

Question 31

What is the enzyme deficiency in Phosphoenolpyruvate Carboxykinase Deficiency?

Answer 31

Phosphoenolpyruvate carboxykinase.

Question 32

What are the key clinical features of Phosphoenolpyruvate Carboxykinase Deficiency?

Answer 32

Hypoglycemia, lactic acidosis, hepatomegaly.

Question 33

What is the treatment for Phosphoenolpyruvate Carboxykinase Deficiency?

Answer 33

Avoid fasting, uncooked cornstarch.

Question 34

What is another name for GSD I?

Answer 34

Von Gierke Disease.

Question 35

What is another name for GSD II?

Answer 35

Pompe Disease.

Question 36

What is another name for GSD III?

Answer 36

Cori Disease or Forbes Disease.

Question 37

What is another name for GSD IV?

Answer 37

Andersen Disease.

Question 38

What is another name for GSD V?

Answer 38

McArdle Disease.

Question 39

What is another name for GSD VI?

Answer 39

Hers Disease.

Question 40

What is another name for GSD VII?

Answer 40

Tarui Disease.

Question 41

What is another name for GSD VIII/IX?

Answer 41

Phosphorylase Kinase Deficiency (for GSD IX).

Question 42

What is another name for GSD 0?

Answer 42

Glycogen Synthase Deficiency.