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8 Cards in this Set
- Front
- Back
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Type I
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Von Gierke's Disease
Affects Glucose-6-Phosphatase Enzyme Inability to release Glucose from glycogen from liver resulting in severe hypoglycemia a few hours after feeding. Increased intracellular G6P leads to hepatomegaly (enlarged liver). Treat w/ frequent glucose drinks t/o day and nasogastric tube @ night. Corn starch used as children get older. Liver Transplant also option |
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Type II
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Pompe's Disease
Alpha Glucosidase Accumulation of normal glycogen in lysosomes of all cells b/ mainly affects muscles. Presents in first few months w/ severe muscle weakness & heart involvement (muscle wall thickens), usually die from heart failure b/f 18 months. New treatment w/ enzyme from rabbit milk. |
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Type III
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Cori's Disease
Debrancher Enzyme Muscle weakness & swollen abdomen due to large liver. Abnormal glycogen w/ short outer branches (limit dextrin). Liver usually gets normal w/ age. Treat w/ high starch diet & prevention of prolonged fasting |
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Type IV
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Andersen's Disease
Brancher Enzyme Long chains of glycogen that illicit an immune response. Leads to cirrhosis of liver & heart involvement. Die b/f 2 yrs of age. Liver transplant only treatment |
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Type V
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McArdle's Disease
Muscle Phosphorylase No glycogen breakdown to provide fuel for glycolysis. Body breaks down muscle in attempt to get more energy. Symptoms: exercise induced myalgia, muscle cramps & fatigue upon exertion. Normal physical exam b/ muscle biopsy shows more glycogen & lack of phosphorylase enzyme. |
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Type VI
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Her's Disease
Liver Phosphorylase Partial loss of enzyme activity. Liver biopsy reveals enzyme @ reduced levels. One of least severe. Few problems other than liver enlargement. |
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Type VII
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Muscle Phosphofructokinase
PFK needed to breakdown glycogen into energy in muscle. Due to PFK glycolytic enzyme, buildup of glycolytic metabolites G6P, F6p. Leads to increased sythase & glycogen accumulates. Pain, weakness, & cramping of muscles during exercise. Treatment is to avoid strenuous exercise. |
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Type VIII
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Phosphorylase Kinase
One of least severe, apart from liver enlargement due to glycogen accumulation, few other problems. |
