What is glycogen

storage disease ?
Definition
Metabolic defects concerned with the glycogen
synthesis and degradation are collectively
referred to as GLUCOGEN STORAGE
DISEASE
Defects in
Due to the Enzymes

Tissue-
Generalized
Specific
The Main Types Of GSD Are
Categorized By Number and
Name...
TYPES
Type I (Von Gierke disease,
defect in glucose-6-
phosphatase)—most common
type of GSD; accounts for 90%
of all GSD cases

Type II (Pompe’s
disease, acid maltase
deficiency)

Type III (Cori’s disease,

debrancher enzyme
deficiency)
Type -1
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
 cause
• 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.
Symptoms
• Frequent infection.
• Gout Kidney failure.
• Liver tumors.
• Osteoporosis.
• Seizures, lethargy, confusion due to low blood sugar.
• Short height.
• Underdeveloped secondary sexual characteristics (breasts, pubic
hair).
• Ulcers of the mouth or bowel.
Type-2 Pompe’s disease

 Glycogen storage disease, type II

(GSD-II).
 Acid maltase deficiency (AMD).

 Disease Families
 Lysosomal storage disease.

 Glycogen storage disease.

 Neuromuscular disease/metabolic
muscle disease.
Pompe’s Disease Signs &
Symptoms

Infantile onset < 12 months Late onset > 12 months

Daytime somnolence
Morning headache
Head lag Shortness of breath/
Respiratory
insufficiency sleep apnea
Enlarged tongue Cardiomegaly/ Scapular winging
cardiomyopathy
Respiratory Scoliosis
insufficiency

Delayed motor Low back pain

development Gait abnormality
Organomegaly Muscle weakness
Muscle weakness

Unusual symptoms or clusters of more common symptoms

Type-3 Cori’s disease
• Glycogen storage disease type III

• Is an autosomal recessive metabolic disorder and inborn error

of metabolism characterized by a deficiency in glycogen de-
branching enzymes.

• 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
dextrinosis.
CAUSE
This disease principally affects the liver.

It causes swelling of the liver, slowing of

growth, low blood sugar levels and, sometimes,
seizures.

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 V (McArdle’s disease,

muscle glycogen
phosphorylase deficiency)

Type VI (Hers’ disease,

liver phosphorylase
deficiency)

Type VII (Tarui’s disease,

muscle phosphofructokinase
deficiency)
TYPE 4-
AMYLOPECTINOSIS
Glycogen branching enzyme deficiency
Polyglucosan body disease
Amylopectinosis

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
of glycogen.
An abnormal form of glycogen, amylopectin, is produced
and accumulates in body tissues, particularly in the liver and
heart.
 CAUSE
Causes of Broader Categories of Andersen
disease: Review the causal information about the
various more general categories of medical conditions:
SYMPTOMS

Failure to thrive
Poor infant weight gain
Lack of infant muscle tone
Gastro intestinal Problems
Enlarged liver
TYPE – 5 McARDLE’S
DISEASE
Mc Ardle’s Disease is a metabolic disease
affecting skeletal muscle.
 It is also known as Type V glycogen storage disease.
 CAUSES
1. Severe rhabdomyolysis may lead to acute
kidney injury.
2. Progression to chronic kidney disease has not
been described.
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
hyperuricaemia
Symptoms
•People with McArdle’sdisease 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 .
TYPE-6 Her’s Disease

•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.
SYMPTOMS
•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
be high.
•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.
 7
 Phosphofructokinase deficiency ,
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.
Symptoms
Its similar to McArdle’s
glycogen storage
disease but more severe.
Consider other causes of
muscle weakness and
myoglobinuria