Glycogen Storage Diseases and Collagen Flashcards
Give the Name and Enzyme for Type 1 Glycogen Storage Disease
Vone Gierke; Glucose 6-phosphate
Give the Name and Enzyme for Type II Glycogen Storage Disease
Pompe; ACID maltase (a-1,4-glucosidase)
Cherub face
Vone Gierke (Type 1)
Cardiomegaly
Type II, Pompe
“PUMP”
Debranching enzyme is found in what glycogen storage disease?
Type III
Other name for Type III GSD
Cori
Branching enzyme
Type IV (Andersen)
Myophosphorylase
Type V (McArdle)
Hepatic Glycogen Phosphorylase
Type VI (Hers)
Type VII name and and enzyme
TARUI; Phosphofrucotkinase (rate limiting enyme)
Type VI GSD is associated with what infectious diease?
Leshmania
Type VIII enzyme
Phosphorylase kinase
Type 0
Glycogen synthase
Where is collagen derived?
procollagen
Substance responsible for the cross linking of collagen fibers
Vitamin C
MC type of collagen
collagen Type 1
Defect in Collagen Type 1 results in?
Osteogenesis Imperfecta
Type I collagen includes
tendon
fascia
Type II collagen includes:
cartilage
Vitreous humor
Type III collagen includes:
Reticular fiber
Granulation tissue
Healing wound
Blood vessels
Defect in Type III collagen
Ehlers Danlos
Type IV collagen
Basement Membrane
Defect in Type IV
Alport’s Syndrome
