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What is glycogen
storage disease ?
 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
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 -1
VON GIERKE’S DISEASE
 Condition in which the body cannot
break down glycogen for energy.
 Glycogen is stored in ...
cause
• This causes abnormal amounts of glycogen to build up
in certain tissues.
• When glycogen is not broken down proper...
• Frequent infection.
• Gout Kidney failure.
• Liver tumors.
• Osteoporosis.
• Seizures, lethargy, confusion due to low bl...
Type-2 Pompe’s disease
 Glycogen storage disease, type II
(GSD-II).
 Acid maltase deficiency (AMD).
 Disease Families
...
Pompe’s Disease
Infantile onset < 12 months Late onset > 12 months
Head lag
Enlarged tongue
Respiratory
insufficiency
Dela...
• Glycogen storage disease type III
• Is an autosomal recessive metabolic disorder and inborn error
of metabolism characte...
This disease principally affects the liver.
 It causes swelling of the liver, slowing of
growth, low blood sugar levels ...
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,
muscle phosphofructokinase
deficienc...
 Extremely rare hereditary metabolic disorder produced by
absence of the enzyme amylo-1:4,1:6-transglucosidase,.
 Which ...
Causes of Broader Categories of Andersen
disease: Review the causal information about the
various more general categories...
Failure to thrive
Poor infant weight gain
Lack of infant muscle tone
Gastro intestinal Problems
Enlarged liver
SYMPTO...
Mc Ardle’s Disease is a metabolic disease
affecting skeletal muscle.
 It is also known as Type V glycogen storage diseas...
1. Severe rhabdomyolysis may lead to acute
kidney injury.
2. Progression to chronic kidney disease has not
been described....
Symptoms
•People with McArdle's disease develop severe
muscle cramps and fatigue in the first few
minutes of activity.
•So...
•Glycogen storage disease type VI (GSD VI)
is a type of glycogen storage disease
•Caused by a deficiency in liver glycogen...
•Symptoms result from mild hypoglycemia. No
specific symptoms are associated with Hers disease
(glycogen storage disease, ...
TYPE-7 TAURI’S DISEASE
 Phosphofructokinase deficiency,
also known as Glycogen storage
disease type VII or Tarui's diseas...
 Its similar to McArdle's
glycogen storage
disease but more severe.
Consider other causes of
muscle weakness and
myoglob...
REFERENCE
1. http://en.m.wikipedia.org/wiki/Glycogen_storage_disease
2. http://ghr.nlm.nih.gov/condition/glycogen-storage-...
We have taken efforts in this power point presentation . However , it
would not have been possible without the kind suppo...
GSD, glycogen storage disease
GSD, glycogen storage disease
GSD, glycogen storage disease
GSD, glycogen storage disease
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GSD, glycogen storage disease

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This is a presentation about Glycogen storage disease and its related aspects exclusively prepared for pharm D students.

Publicada em: Ciências
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GSD, glycogen storage disease

  1. 1. What is glycogen storage disease ?
  2. 2.  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
  3. 3. The Main Types Of GSD Are Categorized By Number and Name...
  4. 4. TYPES
  5. 5. 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)
  6. 6. 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
  7. 7. 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.
  8. 8. • 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
  9. 9. 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.
  10. 10. 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
  11. 11. • 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
  12. 12. 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
  13. 13. Glycogen storage disease type III has an autosomal recessive pattern of inheritance
  14. 14. 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)
  15. 15.  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
  16. 16. Causes of Broader Categories of Andersen disease: Review the causal information about the various more general categories of medical conditions: CAUSE
  17. 17. Failure to thrive Poor infant weight gain Lack of infant muscle tone Gastro intestinal Problems Enlarged liver SYMPTOMS
  18. 18. 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
  19. 19. 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
  20. 20. 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.
  21. 21. •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
  22. 22. •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
  23. 23. 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.
  24. 24.  Its similar to McArdle's glycogen storage disease but more severe. Consider other causes of muscle weakness and myoglobinuria Symptoms
  25. 25. 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
  26. 26. We have taken efforts in this power point presentation . However , it would not have been possible without the kind support and help of many individuals, We would like to extend our sincere thanks to all of them. We are highly indebted to Mr. S.S RAJENDRAN, M .PHARM., for the guidance and constant supervision as well as providing necessary information & also for their support in completing the power point. We would like to express our gratitude towards our parents & members of our families for their kind co-operation and encouragement which helps us in completion of this power point. Our sincere thanks to the teachers who helped us to collect all information requirements from the internet in Drug Information center of RVS college of Pharmaceutical sciences , Coimbatore , India . Our thanks and appreciations also go to our classmates GOKUL.S , ALBEENA FRANCIS , SIVA SANKARI .S & PRESSA PAULOSE who directly or indirectly helped us to complete this power point . Acknowledgment

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