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MSK: G.S.D

Med 1

Wass its called?Wass goin on?
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
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
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)
Andersen Disease- Type 4 Def of branching enzyme, Hepatosplenomegaly, accum of abnormal glycogen (fewer branch points, LONGER branches), heart/liver failure 2 yo
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
Hers' Disease- Type 6 Def of glycogen phosphorylase (liver only), hepatomegaly, accum of glycogen in liver (normal structure), mild hypoglycemia
Created by: JustinCo