Glycogen Storage Disease (GDS)

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Glycogen storage disease(GDS)

• This is group of genetic diseases that result


due to either glycogen synthesis or
degradation.
•Characterized by depostion of either normal
or abnomal glycogen in specific tissues
•Their are at least 13 types of GDS ,here we
discussed some of them those are imp
Symptoms of GDS
•Children with GDS cannot effectively
catabolize glycogen.
•Stored in huge quantities in liver.
•Mostly effect in liver and muscles.
•Symptoms vary based on types of
GDS
Continue....
1. Type I, II, IV, VI (Hepatic forms):-
• Storage of glycogen in liver( hepatomegaly )
• Reduction of glucose in blood( hypoglycemia)
2.Type V, VII( Myopathic forms):-
• Glycogen deposition in muscles
• Muscles weakness, pain and cramps after exercise
• Exercise induced lactic acidosis due to block in
glycolysis .
3.Type II( Pompe’s diseases):-
• Accumulation of glycogen in lysosome, it affect heart.
• Infantile form is very severe and infents dies with few
months due to cardiac failure.
Types of glycogen storage diseases and
affected enzymes
Type Name Affected enzymes

Type I Van Gierkes disease Glucose -6- phosphatase

Type II Pompe’s disease Acid maltase

Type III Cori’s forbes disese Debranching enzyme

Type IV Anderson’s disease Branching enzyme

Type V McArdle’s disease Muscle glycogen


phosphorylase
Type VI Her’s disease Hepatic glycogen
phosphorylase
Type VII Tauri’s disease Phosphofructokinase
Glycosuria
• Excretion of detectable amount of Sugar in
urine known as glycosuria.
• Results from rise in blood gulcose level above
in its renal threshold (180mg%)
• Types of glycosuria:-
1. Alimentary G
2. Renal G
3. Diabetic G
1. Alimentary G:-
• Blood glucose level raise rapidly after meal
and result in glycosuria and known as
alimentary G.
• Due to increase in rate of absorption of
glucose in intestine.
• alimentary canal of GI track is involved.
• In this type blood glucose level maintain after
2hrs of meal.
• This type is benign (harmless)
2. Renal G :-
• In renal G, glucose is excreted in the urine in spit
of normal level of glucose in blood.
• This happens because of a defect in the tubular
cells of the kidney that reduce reabsorption of
glucose.
• It may be hereditary or acquired.
• Hereditary renal G is due to defect in kidney
such as fanconi syndrome.
• Acquired renal G caused by certain drugs or
disease.
• It is diagnosed by routine urine test.
3. Diabetic G :-
• Pathologic condition and due to deficiency or
lack of insulin which causes DM
• Blood glucose level exceeds renal thresholds
the excess glucose passes into urine to
produce glycosuria.
Diabetes mellitus
• DEFINATION :- its metabolic diseases
characterized by hyperglycemia
• caused by hereditary or acquired defects in
insulin secretion ,insulin action or both
• The chronic hyperglycemia of diabetes is
associated with long term damage or
dysfunction and failure of different organs.
Types of DM
1. TYPE I:- or juvenil onset diabetes (insulin
dependent )
• Causes:- it is caused by lack of insulin
secretion due to destruction of pancreatic
beta cell.destruction of beta cell due to viral
infection, autoimmune disorders and
hereditary tendancy of beta cell.
• Onset :- occurs at 14years of age so it is also
called as juvenil means teen age in latin
• Symptoms:-
1. Polyuria ( frequent urination)
2. Polydypsia (excessive thirst)
3. Polyphagia (excessive hunger)
4. Loss of body weight, weakness and tiredness.
• Hyperglycaemia with glycosuria and
ketoacidosis are metabolic changes.
• Patients of type I DM are not abese.
• Treatment :- administration of exogenous
insulin is required.
2.Type II DM :- (Insulin Independent)
• Causes :- it is caused by decreased sensitivity
of target tissues to insulin. This syndrome is
often found in an obese person.
• Onset :- occurs after 40 age and disorder
develops gradually. So referred to as adult
onset diabetes.
• Symptoms : - symptoms are developed
gradually similar to that of type I except
ketoacidosis.
• Tratment :-
1. Treated in early stages by diet control,
exercise and weight reduction and no
exogenous insulin administration is required.
2. Drugs that are increase insulin sensitivity
such as thiazolidinediones and metformin
and sulfonylureas
3. In later stage insulin adminitration is often
required.
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