Pompe Disease Flashcards
Why are macrophages used to deliver Cerezyme?
Macrophages confer high amounts of mannose receptors on the cell membrane.
What kind of vector is used to produce Cerezyme?
CHO cells
How is Cerezyme administered?
Intravenously
How is the mannose-myozyme complex incorporated?
It is incorporated via endocytosis forming endosomes which merge with lysosomes to deliver the enzyme and reduce the amounts of glycogen.
In Pompe disease, what are the main symptoms developed during the early on-set?
Cardiomegaly Cardiomyopathy Hypotonia Feeding difficulty Hepatomegalia Respiratory distress
In Pompe disease, what are the main symptoms developed during the late on-set?
Hypotonia
Delayed motour development
Difficulty swallowing
What are treatment options for Pompe disease?
Symptomatic treatment for cardiac and respiratory problems.
Myozyme (2006) 160-L Reactor
Lumizyme (2010) 4000-L Reactor
What enzyme is defective in Type 2 LSD?
1-4 alpha glucosidase
What is Glycogen?
Polymer of glucose
What are the four types of Glycogen Storage Diseases?
Von Gierke
Pompe
Cori
McArdle
Which enzyme is defective in Von Gierke Type 1 GSD?
Glucose-6-phosphatase
Which enzyme is defective in Pompe Type 2 GSD?
1-4 alpha glucosidase
Which enzyme is defective in Cori Type 3 GSD?
1-6 alpha glucosidase
Which enzyme is defective in McArdle Type 4 GSD?
Glycogen phosphorylase
What is the gene encoding for 1-4 alpha glucosidase?
GAA
