Med3
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
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| Von Gierkes Disease-Type1a/1b | A-Def of G6-Phosphatase, B-Def of G6-Phosphatase translocase in ER. Glycogen accumulates in Liver/Kidneys-->Hepato/Renomegaly, Fasting Hypoglycemia, Hyperlipidemia, Hyperuricemia, Lactic Acidemia, affected kids = doll like face/protruding ADB
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| Pompe Disease- Type 2 | Most severe, Def of Lysosomal alpha 1-4 Glucosidase, glycogen accumulates in vacuoles of all organs with lysosomes (mostly in heart/liver/muscle), cardiomegaly, hypotonia, muscle weakness, children= cardiac failure by age 2, adults = muscle dystrophy
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| Cori/Forbe Disease- Type 3 | Def of debranching enzyme in liver and muscle, fasting hypoglycemia (milder then type 1), hepatomegaly in infants, accum of abnormal glycogen in muscle (SHORTER branches, resembles limit dextrin)
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| Andersen Disease- Type 4 | Def of branching enzyme, Hepatosplenomegaly, accum of abnormal glycogen (fewer branch points, LONGER branches), heart/liver failure 2 yo
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| McArdle Syndrome- Type 5 | Def of Glycogen Phosphorylase (muscle only), poor exercise tolerance and cramps, no rise is blood lactate after exercise, Glycogen accum in muscles (normal structure), Myoglobinuria (burgundy urine) following exercise
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| Hers' Disease- Type 6 | Def of glycogen phosphorylase (liver only), hepatomegaly, accum of glycogen in liver (normal structure), mild hypoglycemia
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