GLYCOGEN STORAGE DISEASES

Question 1

NAME

TYPE 0

Answer 1

0a
0b

Question 2

NAME

TYPE I

Answer 2

Ia von Gierke disease
Ib von Gierke Disease

Question 3

NAME

TYPE II

Answer 3

Pompe disease

Question 4

NAME

TYPE III

Answer 4

Cori/Forbes disease
(Type IIa-b)

Question 5

NAME

TYPE IV

Answer 5

Amylopectinosis,
Andersen’s disease

Question 6

NAME

TYPE V

Answer 6

McArdle disease

Question 7

NAME

TYPE VI

Answer 7

Hers disease

Question 8

NAME

TYPE VII

Answer 8

Tarui disease

Question 9

NAME

TYPE IX

Answer 9

IXa
IXb
IXc
IXd

Question 10

NAME

TYPE XI

Answer 10

Fanconi-Bickel

Question 11

CLINICAL FEATURES

Hypoglycemia; hyperketonemia; early death

Answer 11

TYPE 0

Question 12

CLINICAL FEATURES

Glycogen accumulation in liver and renal tubule cells
hypoglycemia;
lactic acidemia;
ketosis;
hyperlipemia

Answer 12

TYPE I

Question 13

CLINICAL FEATURES

Accumulation of glycogen in lysosomes:
juvenile-onset variant, muscle hypotonia, death from heart failure by age 2; adult-onset variant, muscle dystrophy

Answer 13

TYPE II

Question 14

CLINICAL FEATURES

Fasting hypoglycemia; hepatomegaly in infancy;
accumulation of characteristic branched polysaccharide (limit dextrin);
variable muscle weakness

Answer 14

TYPE III

Question 15

CLINICAL FEATURES

Hepatosplenomegaly;
accumulation of polysaccharide with few branch points;
death from heart or liver failure before age 5

Answer 15

TYPE IV

Question 16

CLINICAL FEATURES

Poor exercise tolerance;
muscle glycogen abnormally high (2.5-4%);
blood lactate very low after exercise

Answer 16

TYPE V

Question 17

CLINICAL FEATURE

Hepatomegaly;
accumulation of glycogen in liver;
mild hypoglycemia;
generally good prognosis

Answer 17

TYPE VI

Question 18

CLINICAL FEATURES

Poor exercise tolerance;
muscle glycogen abnormally high (2.5-4%);
blood lactate very low after exercise;
also hemolytic anemia

Answer 18

TYPE VII

Question 19

CLINICAL FEATURES

Hepatomegaly;
accumulation of glycogen in liver and muscle;
mild hypoglycemia;
generally good prognosis

Answer 19

TYPE IX

Question 20

CLINICAL FEATURES

Hepatomegaly;
accumulation of glycogen in liver

Answer 20

TYPE X

Question 21

CLINICAL FEATURES

Liver and kidney are affected, weak bones, small for age, renal dysfunction, generally good

Answer 21

TYPE XI

Question 22

CLINICAL FEATURES

Myopathy, exercise intolerance, hemolytic anemia

Answer 22

TYPE XII

Question 23

CLINICAL FEATURES

Exercise intolerance and myalgia

Answer 23

TYPE XIII

Question 24

CLINICAL FEATURES

Cardiomegaly

Answer 24

TYPE XV

Question 25

# **ENZYME DEFICIENCY** TYPE **0**

Answer 25

Glycogen synthase

Question 26

# **ENZYME DEFICIENCY** TYPE **I**

Answer 26

Glucose-6-phosphatase

Question 27

# **ENZYME DEFICIENCY** TYPE **II**

Answer 27

Lysosomal α1 → 4 and α1 → 6 glucosidase (acid maltase)

Question 28

# **ENZYME DEFICIENCY** TYPE **III**

Answer 28

**Liver** and **muscle** **debranching** enzyme

Question 29

# **ENZYME DEFICIENCY** TYPE **IV**

Answer 29

**Glycogen Branching** enzyme

Question 30

# **ENZYME DEFICIENCY** TYPE **V**

Answer 30

**Muscle** phosphorylase

Question 31

# **ENZYME DEFICIENCY** TYPE **VI**

Answer 31

**Liver** phosphorylase

Question 32

# **ENZYME DEFICIENCY** TYPE **VII**

Answer 32

**Muscle** and **erythrocyte** phosphofructokinase 1

Question 33

# **ENZYME DEFICIENCY** TYPE **IX**

Answer 33

**Liver** and **muscle** **phosphorylase** kinase

Question 34

# **ENZYME DEFICIENCY** TYPE **X**

Answer 34

**Muscle phosphoglycerate** mutase

Question 35

# **ENZYME DEFICIENCY** TYPE **XI**

Answer 35

Glucose transporter 2

Question 36

# **ENZYME DEFICIENCY** TYPE **XII**

Answer 36

Aldolase A

Question 37

# **ENZYME DEFICIENCY** TYPE **XIII**

Answer 37

Beta-enolase

Question 38

# **ENZYME DEFICIENCY** TYPE **XV**

Answer 38

Glycogenin-1