Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
6 Cards in this Set
- Front
- Back
|
Glycogen Storage Disease
Type I |
von Gierke's
----------------- Deficient Enzyme: Glucose-6-phosphatase Clinical Features: severe hypoglycemia hepatomegaly hyperlipidemia short stature no structural change to glycogen |
|
|
Glycogen Storage Disease
Type II |
Pompe's
----------------- Deficient Enzyme: Lysosomal alpha1,4-glucosidase Clinical Features: cardiomegaly muscle weakness death by 2y Glycogen-like material in inclusion bodies no structural change to glycogen |
|
|
Glycogen Storage Disease
Type III |
Cori's
----------------- Deficient Enzyme: Glycogen DeBranching enzyme Clinical Features: Mild hypoglycemia liver enlargement Short outer branches Single glucose residue at outer branch (alpha 1,6) |
|
|
Glycogen Storage Disease
Type IV |
Andersen's (amylopectinosis)
----------------- Deficient Enzyme: Branching enzyme Clinical Features: infantile hypotonia cirrhosis death by 2y very few branches, esp periphery |
|
|
Glycogen Storage Disease
Type V |
McArdle's
----------------- Deficient Enzyme: Muscle Glycogen Phosphorlyase Clinical Features: Muscle weakness on exercise (NO hepatomegaly, hypoglycemia) Normal structure |
|
|
Glycogen Storage Disease
Type VI |
Hers
----------------- Deficient Enzyme: Hepatic Glycogen Phosphorylase Clinical Features: Mild fasting hypoglycemia hepatomegaly <== cirrhosis Normal Structure |
