LSD Flipped Flashcards
1
Q
Which drug takes advantage of a molecular chaperone strategy
A
Migalastat
2
Q
Fabry dz inheritance
A
X-linked recessive
3
Q
Fabry dz mutation and result
A
Inactivating mutation in alpha-galctosidase A leading to sphingolipid accumulation
4
Q
Why would ERT fail for Niemann-Pick type C
A
Target enzyme is a membrane protein
5
Q
Miglustat is a
A
Glucosylceramide synthase inhibitor…inhibits synthesis of glycosphingolipids in cells
6
Q
Gaucher’s dz defect
A
In glucocerebrosidase (GBA)
7
Q
Gaucher’s symptoms
A
Bruising, anemia, fatigue, liver and spleen enlargement
Sclera, skeletal probs
8
Q
What is obstacle to treating neurological symtpims of LSDs
A
Enzymes are water solbule…only very select hydrophilic molecules can get through BBB
