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  • Glycogen Storage Diseases: o o o o o

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    Glycogen storage diseases include Von Gierke disease, Pompe disease, and Cori and McArdle diseases. These are all autosomal recessive disorders characterized by an inability to break down glycogen properly in the liver or muscles. Symptoms include hypoglycemia, lactic acidosis, organomegaly, and exercise intolerance. Treatment focuses on frequent oral glucose intake and avoiding foods like fructose and galactose to prevent symptoms.

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    Glycogen Storage Dis

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    Glycogen storage diseases include Von Gierke disease, Pompe disease, and Cori and McArdle diseases. These are all autosomal recessive disorders characterized by an inability to break down glycogen properly in the liver or muscles. Symptoms include hypoglycemia, lactic acidosis, organomegaly, and exercise intolerance. Treatment focuses on frequent oral glucose intake and avoiding foods like fructose and galactose to prevent symptoms.

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    7 views1 page

    Glycogen Storage Diseases: o o o o o

    Uploaded by

    Anonymous uFGqdi3Jd
    Glycogen storage diseases include Von Gierke disease, Pompe disease, and Cori and McArdle diseases. These are all autosomal recessive disorders characterized by an inability to break down glycogen properly in the liver or muscles. Symptoms include hypoglycemia, lactic acidosis, organomegaly, and exercise intolerance. Treatment focuses on frequent oral glucose intake and avoiding foods like fructose and galactose to prevent symptoms.

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    of 1

    Glycogen storage diseases

    Von Gierke
    disease
    (type I)

    Pompe disease
    (type II)
    Cori disease
    (type III)
    McArdle disease
    (type V)

    ALL Autosomal recessive


    Severe fasting hypoglycemia,
    Glucose-6-phosphatase def.
    glycogen in liver hepatomegaly ttt: frequent oral glucose/corn
    starch; avoidance of fructose and
    Lactic acidosis,
    galactose
    triglycerides,
    uric acid
    o Cardiomegaly, HOCM,
    o Lysosomal -1,4-glucosidase def.
    o exercise intolerance,
    (acid maltase)
    o diaphragm weakness Resp. failure o Pompe = pump heart
    Milder form of type I normal lactate Debranching enzyme def.
    (-1,6-glucosidase)
    levels
    Gluconeogenesis is intact
    - glycogen in muscle, but muscle cannot Skeletal muscle glycogen
    break
    phosphorylase def.
    it down painful muscle cramps,
    (myophosphorylase)
    -Myoglobinuria (red urine) strenuous
    ttt: vitamin B6 (cofactor)
    exercise
    McArdle = Muscle
    -Arrhythmia from electrolyte
    abnormalities

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