GSD Diseases

Question 1

GSD II is …?

Answer 1

Pompe disease

Question 2

What is the inheritance pattern of glycogen storage diseases?

Answer 2

autosomal recessive

Question 3

GSD III is … ?

Answer 3

Cori disease

Question 4

Cori disease is a deficiency of… ?

Answer 4

alpha-1,6 glucosidase (DE-branching)

Question 5

What are symptoms of Cori disease?

Answer 5

1. hypoglycemia

2. hepatomegaly

Question 6

Pompe disease is a deficiency of…?

Answer 6

acid maltase (alpha-glucosidase)

Question 7

What are symptoms of GSD II?

Answer 7

1. cardiomegaly (enlarged heart)

2. muscle weakness

Question 8

GSD I is …?

Answer 8

Von Gierke disease

Question 9

Someone with GSD 1 is deficient in what enzyme?

Answer 9

glucose 6- phosphatase

Question 10

Fasting hypoglycemia, hepatomegaly and hyerlipidemia are sxs of which GSD?

Answer 10

GSD 1 ( Von Gierke)

Question 11

GSD IV is …?

Answer 11

Anderson Disease

Question 12

Anderson disease is deficient in what enzyme?

Answer 12

glucosyl 4,6 transferase (Branching)

Question 13

Symptoms of GSD IV?

Answer 13

1. hepatosplenomegaly

2. death by 5 yrs of age

Question 14

GSD V is …?

Answer 14

McArdle disease

Question 15

GSD V is deficient in what enzyme?

Answer 15

Muscle glycogen phosphorylase

{think McArdles: M for muscle)

Question 16

Weakness, Fatigue, Myoglobinuria (muscle breakdown) is a result of which GSD?

Answer 16

GSD V (McArdles)

Question 17

GSD VI is ?

Answer 17

Hers disease

Question 18

Hers disease enzyme deficiency?

Answer 18

liver glycogen phosphorylase

{think Hers: H for hepatic —> liver}

Question 19

What is a symptom of Hers disease?

Answer 19

1. hepatomegaly

Question 20

What is GSD 0?

Answer 20

deficiency in glycogen synthase

used in what process?

Question 21

Tarui Disease (GSD VII) is deficiency of which enzyme?

Answer 21

PFK1 of glycolysis

Question 22

High bilirubin, jaundice muscle weakness and cramps are all symptoms of ?

Answer 22

Tarui disease

Question 23

What are the symptoms of GSD V?

Answer 23

high bilirubin, jaundice and myoglobinuria

Question 24

3 symptoms of GSD 1?

Answer 24

1. hypoglycemia
2. hepatomegaly
3. hyperlipidimia