Metabolic defects concerned with the glycogen
synthesis and degradation are collectively
referred to as GLUCOGEN STORAGE
The Main Types Of GSD Are
Categorized By Number and
Type I (Von Gierke disease,
defect in glucose-6-
type of GSD; accounts for 90%
of all GSD cases
Type II (Pompe’s
disease, acid maltase
Type III (Cori’s disease,
VON GIERKE’S DISEASE
Condition in which the body cannot
break down glycogen for energy.
Glycogen is stored in the liver and
muscles and is normally broken down
into glucose when you do not eat
• This causes abnormal amounts of glycogen to build up
in certain tissues.
• When glycogen is not broken down properly, it leads to
low blood sugar.
• Von Gierke disease is inherited, which means it is
passed down through families.
• If both parents carry the defective gene related to this
condition, each of their children has a 25% chance of
developing the disease.
• Frequent infection.
• Gout Kidney failure.
• Liver tumors.
• Seizures, lethargy, confusion due to low blood sugar.
• Short height.
• Underdeveloped secondary sexual characteristics (breasts, pubic
• Ulcers of the mouth or bowel.
Infantile onset < 12 months Late onset > 12 months
Shortness of breath/
Low back pain
Unusual symptoms or clusters of more common symptoms
• Glycogen storage disease type III
• Is an autosomal recessive metabolic disorder and inborn error
of metabolism characterized by a deficiency in glycogen de-
• It is also known as Cori's disease .
• Other names include Forbes disease , an American Physician
who further described the features of the disorder, or limit
Type-3 Cori’s disease
This disease principally affects the liver.
It causes swelling of the liver, slowing of
growth, low blood sugar levels and, sometimes,
Muscle weakness may develop later in life,
and is most pronounced in the muscles of the
forearms, hands, lower legs and feet.
Weakness often is accompanied by loss of
muscle bulk and exercise intolerance.
Glycogen storage disease type III has an
autosomal recessive pattern of inheritance
Type IV (Andersen’s disease,
brancher enzyme deficiency)
Type VII (Tarui’s disease,
Type VI (Hers’ disease,
Type V (McArdle’s disease,
Extremely rare hereditary metabolic disorder produced by
absence of the enzyme amylo-1:4,1:6-transglucosidase,.
Which is an essential mediator of the synthesis
An abnormal form of glycogen, amylopectin, is produced
and accumulates in body tissues, particularly in the liver and
TYPE – 4 ANDERSON’S DISEASE
Glycogen branching enzyme deficiency
Polyglucosan body disease
Causes of Broader Categories of Andersen
disease: Review the causal information about the
various more general categories of medical conditions:
Failure to thrive
Poor infant weight gain
Lack of infant muscle tone
Gastro intestinal Problems
Mc Ardle’s Disease is a metabolic disease
affecting skeletal muscle.
It is also known as Type V glycogen storage disease.
TYPE – 5 McARDLE’S DISEASE
1. Severe rhabdomyolysis may lead to acute
2. Progression to chronic kidney disease has not
3. Seizures may occur but are extremely rare.
4. Potential hyperuricaemia; overproduction of
adenosine monophosphate (AMP), with
accelerated liberation of hypoxanthine and
xanthine into the blood, possibly leading to
•People with McArdle's disease develop severe
muscle cramps and fatigue in the first few
minutes of activity.
•Some adults develop a progressive proximal
weakness fixed motor weakness.
•About one half of all patients will have
experienced myoglobinuria (dark urine)
following intense exercise.
•Glycogen storage disease type VI (GSD VI)
is a type of glycogen storage disease
•Caused by a deficiency in liver glycogen
phosphorylase or other components of the
associated phosphorylase cascade system.
TYPE-6 Her’s Disease
•Symptoms result from mild hypoglycemia. No
specific symptoms are associated with Hers disease
(glycogen storage disease, type VI).
•Hepatomegaly may be present; however, because
many causes of hepatic injury exist, suspicion must
•Growth retardation is possible.
•The liver isoform of phosphorylase is deficient.
•A mutation has been mapped to chromosome 14. A
splicing site mutation has been identified.
TYPE-7 TAURI’S DISEASE
also known as Glycogen storage
disease type VII or Tarui's disease
This disease is one of the metabolic
muscle disorders that interferes with the
processing of food (in this case,
carbohydrates) for energy production.
Its similar to McArdle's
disease but more severe.
Consider other causes of
muscle weakness and
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