Glycogen Storage Dzs Flashcards
massive enlargement of the liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyper lipidemia,
Type 1, Von Gierke’s
Defective enzyme: Glucose 6 Phosphatase or transport system
cardiorespiratory failure casuing death usually before age 2
Type II, Pompe
alpha 1, 4 glucosidase (lysosomal) enzyme deficiency
milder version of type 1 (massive enlargement of the liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyper lipidemia)
Type III, Cori
Amylo- 1, 6- glucosidase: debranching enzyme deficiency
Progressive cirrhosis of liver, liver failure cause of death, usually before age 2
Type IV, Andersen
branche enzyme deficiency (cant go alpha 1,4 –> alpha 1, 6)
limited ability to perform strenuous exercise because of painful muscle crams. otherwise patient is normal and well developed.
Type V, McArdle
Phosphorylase deficiency:
Like type I but milder course (massive enlargement of the liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyper lipidemia)
Type VI, Hers
phosphorylase
like type V
Type VII
phosphofructokinase
mild liver enlargement, mild hypoglycemia
type VIII
phosphorylase kinase
Type I
Von Gierge’s
Defective enzyme: Glucose 6 Phosphatase or transport system
Type II
Pompe
alpha 1, 4 glucosidase (lysosomal) enzyme deficiency
Type III
Cori’s
Amylo- 1, 6- glucosidase: debranching enzyme deficiency
Type IV
Debranching
debranching enzyme deficiency (can go alpha 1,4 –> alpha 1, 6)
Type V
McArdle
Phosphorylase deficiency:
Type VI
HERS
phosphorylase
Type VII
phosphofructokinase
Type VIII
phosphorylase
disorders with normal structured glycogen
types 1, 2, 5, 7, 8
Von Gierke’s, Pompe’s, McArdle’s, VII and VIII
“short outer branches”
Cori’s, type III
“very long outer branches”
Andersen, branching enzyme (cannot move alpha 1,4 –> alpha 1, 6.
debranching enzyme vs branching enzyme
Cori’s is a problem of debranching, Anderson’s in a problem of branching
Periodic Acid Schiff stain identifies what?
glycogen
