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    Presentation (1) SURAJ 03

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    Presentation (1) SURAJ 03 (5)

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    4 views13 pages

    Presentation (1) SURAJ 03

    Uploaded by

    ajju750netam

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 13

    GLYCOGEN STORAGE DISEASES

    BY SURAJ KUMAR
    ROLL NUMBER -115
    DEPARTMENT OF BIOCHEMISTRY
    OBJECTIVE

    GENERAL INTRODUCTION
    CAUSES OF DISEASE
    TYPES OF DISEASE
    SIGNS AND SYNMPTOMS
    INTRODUCTION
    The metabolic defects concerned with the
    glycogen synthesis and degradation are
    collectively referred to as glycogen storage
    diseases.
    These disorders are due to defects in the
    enzymes.
     The inherited disorders are characterized
    by deposition of normal or abnormal type
    of glycogen in one or more tissues.
    CAUSES

    When glucose is changed into glycogen, a
    different enzyme is required at each step.
    If one of these enzymes is defective (not
    normal) and fails to complete its step, the
    process stops. These enzyme defects cause
    glycogen storage diseases.

    TYPES
    Type I- von Gierke disease
    Typell- Pompe’s disease.
    Type Ill-Cori disease, or Forbes disease
    Type IV- Andersen’s disease.
    TypeV- McArdle’s disease.
    TypeVl- Her’s disease.
     TypeVII- Tarui’s disease
    Von Gierke’s disease (Type I)

    It is transmitted by autosomal recessive trait

    Enzyme deficiency :-Glucose 6-phosphatase

    The enzyme is absent in liver cells & intestinal mucosa.

     Liver cells, intestinal mucosa & renal tubular epithelial


    cells are loaded with glycogen, which is normal in
    structure but metabolically not available
    Pompe’s disease (Type II)

    Enzyme deficiency: - Lysosomal -1,4 glucosidase (acid


    maltase).

    Enlargement of heart:- (cardiomegaly).


    Glycogen accumulates in lysosomes in all most all the
    tissues.
    Nervous system is also affected
    No hypoglycemia
    Death occurs due to heart failure
    Coris disease type (III)
    limit Dextrinosis Forbes disease

    Enzyme deficiency :-
    amyl9 a 1 4 glucosidase debranching enzyme
    Organs affected :-
    liver heptaomegaly
    Muscle heart leucocytes
    Branches chain glycogen accumulates
    Clinical manifestations
    Are similar to von giekes disease but glycogen is
    abnormal moderate hypoglycemia
    Andersons disease(TYPE IV )
    Enzyme deficiency :- Glucosyl 4 6 transferase.
     Glycogen deposited ís abnormal .
     Glycogen with only few branches accumulate
    Organs mainly affected ;
     Liver (heptaomegaly) Heart, muscle and
    kidney Moderate hypoglycemia
    ascites ,cirrhosis of liver ,hepatic failure and
    usually fatal.
    McArdle’s disease (Type V)

    Enzyme deficiency:
    Muscle glycogen phosphorylase
    Glycogen deposited is normal in structure.

    Organs involved – skeletal muscle.


    Muscle cramps on exercise, pain, weakness & stiffness
    of muscles
    No lactate is formed
    Muscle may get damaged
    Her’s disease (Type VI)

    Enzyme deficiency:
    Liver glycogen phosphorylase.
    Glycogen deposited is normal in structure
    Organs mainly affected - liver
    Hepatomegaly, moderate hypoglycemia, mild
    acidosis, liver glycogen cannot form glucose
    (pyruvate & lactate can be precursors for
    glucose).
    Tarui’s disease (Type VII)

    Enzyme deficiency: -Phosphofructokinase

    Organs affected – skeletal muscles


    Accumulation of glycogen in skeletal muscles.
    Glucose 6-phosphate & fructose 6-phosphate
    is also accumulated
    Muscle cramps
    Sign and symptoms:
    Failure to thrive
    Poor infant weight gain.
    Lack of infant muscle tone.
    Enlarged liver
    Growth delay in childhood
    Reduce blood glucose
     Even heart abnormalities.

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