Glycogen storage diseases (GSD) are metabolic disorders resulting from enzyme defects that affect glycogen synthesis and degradation. Main types include von Gierke disease (GSD type I), Pompe disease (GSD type II), and Cori's disease (GSD type III), each characterized by specific symptoms and inheritance patterns. These diseases lead to issues such as low blood sugar, muscle weakness, and organ enlargement due to the abnormal accumulation of glycogen in tissues.

2. What is glycogen
storage disease ?

3.  Metabolic defects concerned with the glycogen
synthesis and degradation are collectively
referred to as GLUCOGEN STORAGE
DISEASE
 Due to
Defects in
the Enzymes
Generalized
Tissue-
Specific
Definition

4. The Main Types Of GSD Are
Categorized By Number and
Name...

5. TYPES

6. 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)

7. 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

8. 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.

9. • 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.
Symptoms

10. 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.

11. Pompe’s Disease
Infantile onset < 12 months Late onset > 12 months
Head lag
Enlarged tongue
Respiratory
insufficiency
Delayed motor
development
Muscle weakness
Organomegaly
Cardiomegaly/
cardiomyopathy
Morning headache
Daytime somnolence
Shortness of breath/
sleep apnea
Scapular winging
Scoliosis
Low back pain
Muscle weakness
Signs &
Symptoms
Unusual symptoms or clusters of more common symptoms
Respiratory
insufficiency
Gait abnormality

12. • 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.
Type-3 Cori’s disease

13. 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.
CAUSE

14. Glycogen storage disease type III has an
autosomal recessive pattern of inheritance

15. Type IV (Andersen’s disease,
brancher enzyme deficiency)
Type VII (Tarui’s disease,
muscle phosphofructokinase
deficiency)
Type VI (Hers’ disease,
liver phosphorylase
deficiency)
Type V (McArdle’s disease,
muscle glycogen
phosphorylase deficiency)

16.  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.
TYPE – 4 ANDERSON’S DISEASE
- AMYLOPECTINOSIS
Glycogen branching enzyme deficiency
Polyglucosan body disease
Amylopectinosis

17. Causes of Broader Categories of Andersen
disease: Review the causal information about the
various more general categories of medical conditions:
CAUSE

18. Failure to thrive
Poor infant weight gain
Lack of infant muscle tone
Gastro intestinal Problems
Enlarged liver
SYMPTOMS

19. 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

20. 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
CAUSES

21. Symptoms
•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.

23. •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

24. •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.
SYMPTOMS

26. TYPE-7 TAURI’S DISEASE
 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.

27.  Its similar to McArdle's
glycogen storage
disease but more severe.
Consider other causes of
muscle weakness and
myoglobinuria
Symptoms

28. REFERENCE
1. http://en.m.wikipedia.org/wiki/Glycogen_storage_disease
2. http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
3 . http://www.unitedpompe.com/aboutpompe.cfm
4. https://www.agsd.org.uk/tabid/1135/default.aspx
5. https://www.rarediseases.org/rare-disease-information/rare-
diseases/by ID/394/view Abstract
6. http://www.medindia.net/patients/patientinfo/mcardle-disease.htm
7. http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi
8.http://www.socialstyrelsen.se/rarediseases/taruidisease#anchor_1

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