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GLYCOGEN STORAGE DISEASES
1.
2. The metabolic defects concerned with the
glycogen synthesis and degradation are
collectively referred to as glycogen storage
diseases.
These disorders are due to defects in the
enzymes.
The inherited disorders are characterized by
deposition of normal or abnormal type of
glycogen in one or more tissues.
3. It is transmitted by autosomal recessive trait.
Enzyme deficiency: Glucose 6-phosphatase.
The enzyme is absent in liver cells & intestinal
mucosa.
Liver cells, intestinal mucosa & renal tubular
epithelial cells are loaded with glycogen,
which is normal in structure but metabolically
not available.
4. Fasting hypoglycemia:
Hypoglycemia, decreases insulin secretion,
which in turn inhibits protein synthesis
causes stunted growth (dwarfism).
Lactic acidemia:
Glucose is not synthesized from lactate
produced in muscle & liver.
5. Lactate level in blood increases & the pH is
lowered (acidosis).
Hyperlipidemia:
Fat is utilized as energy source, which leads
to lipaemia, acidaemia & ketosis.
Excess of acetyl CoA resulting in increased
cholesterol levels, produce xanthomas.
There is a blockade in gluconeogenesis.
6. Hyperuricemia:
Glucose 6-phosphate that accumulates is
diverted to HMP Shunt, leading to increased
synthesis of ribose phosphates which increase
the cellular levels of phosphoribosyl
pyrophosphate & enhance the metabolism of
purine nucleotides to uric acid (gouty arthritis).
7. Enzyme deficiency: Lysosomal α-1,4
glucosidase (acid maltase).
Glycogen accumulates in lysosomes in all
most all the tissues.
Enlargement of heart (cardiomegaly).
Nervous system is also affected.
No hypoglycemia
Death occurs due to heart failure.
8. Enzyme deficiency: Amylo a-1,6-glucosidase
(debranching enzyme)
Organs affected - Liver (Hepatomegaly),
muscle, Heart, leucocytes
Branched chain glycogen accumulates.
Clinical manifestations are similar to von
Gierke's disease but glycogen is abnormal.
Moderate hypoglycemia.
9. Enzyme deficiency:
Glucosyl 4-6 transferase (branching enzyme)
Glycogen deposited is abnormal.
Glycogen with only few branches accumulate.
Organs mainly affected - liver
(Hepatomegaly), heart, muscle & kidney.
Moderate hypoglycemia, ascites, cirrhosis of
liver & hepatic failure & usually fetal.
10. Enzyme deficiency:
Muscle glycogen phosphorylase
Glycogen deposited is normal in structure.
Organs involved - skeletal muscle.
Muscle cramps on exercise, pain, weakness &
stiffness of muscles.
No lactate is formed.
Muscle may get damaged.
11. Enzyme deficiency:
Liver glycogen phosphorylase.
Glycogen deposited is normal in structure.
Organs mainly affected liver.
Hepatomegaly, moderate hypoglycemia, mild
acidosis, liver glycogen cannot form glucose
(pyruvate & lactate can be precursors for
glucose).
12. Enzyme deficiency: Phosphofructokinase
Organs affected - skeletal muscles.
Accumulation of glycogen in skeletal
muscles.
Glucose 6-phosphate & fructose 6-phosphate
is also accumulated.
Muscle cramps.
13. Enzyme deficiency:
Hepatic phosphorylase kinase.
Failure of hepatic glycogen phosphorylase
activity leading to decrease in glycogenolysis.
Hepatomegaly, mild to moderate
hypoglycemia.
14. Textbook of Biochemistry-MN Chatterjea
Textbook of Biochemistry-U Sataynarayana
Textbook of Biochemistry-DM Vasudevan
