Name: Ochulor Chiamaka Stephanie

Department: Biochemistry

Matric No: 190801097

Course code: Bch332

Assignment questions

Write on the 9 Glycogen storage diseases including the:

1. Enzymes deficient and effect of the deficiency

2. Causes of the diseases
3. Where it occurs
4. Symptoms of the disease

Answer

1. GSD Type I ( Von Gierke Disease)

-Enzyme deficiency: Glucose-6- phosphatase enzyme

-Causes: It is caused by a deficiency in glucose-6- phosphatase leading to the inability

to release glucose from glycogen.

-Affected organs or tissues/ Where it occurs: It affects the liver, intestine, or the
muscle

-Symptoms: Hypoglycemia episodes occur during fasting. Hepatomegaly, and growth

retardation

2. GSD Type II ( Pompe Disease)

- Enzyme deficiency: Deficiency of acid alpha-glucosidase enzyme

- Causes: It is caused by a deficiency in the acid alpha-glucosidase enzyme,

resulting in glycogen accumulation in lysosomes.
- Affected organs or tissues/ Where it occurs: It affects the liver, muscles, heart

- Symptoms: Heart failure, respiratory difficulty due to muscle weakness

3. GSD Type III ( Cori disease)

- Enzyme deficiency: Glycogen debranching enzyme

- Causes: It is caused by glycogen debranching enzyme, leading to abnormal

glycogen structure

- Affected organs or tissues/ Where it occurs: It affects the muscles and the
liver

- Symptoms: Muscle weakness, hepatomegaly, hypoglycemia, growth retardation

4. GSD Type IV ( Anderson Disease)

- Enzyme deficiency: Branching enzyme

- Causes: It is caused by a deficiency of glycogen debranching enzyme, leading

to abnormal glycogen structure

- Affected organs or tissues/ Where it occurs: It affects the liver, leukocytes,

and fibroblasts

- Symptoms: liver cirrhosis, hepatosplenomegaly and ascites

5. GSD Type V ( McArdle Disease)

- Enzyme deficiency: Muscle phosphorylase

- Causes: It is caused by a deficiency in muscle glycogen phosphorylase, leading

to impaired glycogen breakdown in the muscle

- Affected organs or tissues/ Where it occurs: Muscle

- Symptoms: Painful cramps after strenuous exercise. myoglobinuria

6. GSD Type VI (Hers Disease)

- Enzyme deficiency: Liver phosphorylase

- Causes: It is caused by a deficiency of liver glycogen phosphorylase, leading to

impaired glycogen breakdown in the muscle.

- Affected organs or tissues/ Where it occurs: It affects the liver, leukocytes

- Symptoms: Growth retardation, Mild hepatomegaly, mild hypoglycemia

7. GSD VII (Tarui Disease)

- Enzyme deficiency: Muscle phosphofructokinase

- Causes: It is caused by a deficiency of muscle phosphofructokinase enzyme,

leading to impaired glycolysis muscle

- Affected organs or tissues/ Where it occurs: It affects the muscle

- Symptoms: degenerative brain disease, easy fatigability, painful cramps after

strenuous exercise.

8. GSD VIII ( Inclusion body myopathy 2)

- Enzyme deficiency: Phosphorylase kinase

- Causes: It is caused by a deficiency in phosphorylase kinase, which activates

glycogen phosphorylase

- Affected organs or tissues/ Where it occurs: It affects the muscle, liver, red
blood cells,

- Symptoms: Exercise intolerance, muscle weakness, and myoglobinuria

9. GSD Type IX

- Enzyme deficiency: Liver phosphorylase kinase

- Causes: Caused by deficiency of phosphorylase kinase in the muscle or liver

- Affected organs or tissues/ Where it occurs: It affects the liver

- Symptoms: fasting hypoglycemia, growth retardation, hepatomegaly