Busy. Please wait.

show password
Forgot Password?

Don't have an account?  Sign up 

Username is available taken
show password


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
We do not share your email address with others. It is only used to allow you to reset your password. For details read our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Don't know
remaining cards
To flip the current card, click it or press the Spacebar key.  To move the current card to one of the three colored boxes, click on the box.  You may also press the UP ARROW key to move the card to the "Know" box, the DOWN ARROW key to move the card to the "Don't know" box, or the RIGHT ARROW key to move the card to the Remaining box.  You may also click on the card displayed in any of the three boxes to bring that card back to the center.

Pass complete!

"Know" box contains:
Time elapsed:
restart all cards
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

GSD- Path, genetics


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