LSD Flipped

Question 1

Which drug takes advantage of a molecular chaperone strategy

Answer 1

Migalastat

Question 2

Fabry dz inheritance

Answer 2

X-linked recessive

Question 3

Fabry dz mutation and result

Answer 3

Inactivating mutation in alpha-galctosidase A leading to sphingolipid accumulation

Question 4

Why would ERT fail for Niemann-Pick type C

Answer 4

Target enzyme is a membrane protein

Question 5

Miglustat is a

Answer 5

Glucosylceramide synthase inhibitor…inhibits synthesis of glycosphingolipids in cells

Question 6

Gaucher’s dz defect

Answer 6

In glucocerebrosidase (GBA)

Question 7

Gaucher’s symptoms

Answer 7

Bruising, anemia, fatigue, liver and spleen enlargement

Sclera, skeletal probs

Question 8

What is obstacle to treating neurological symtpims of LSDs

Answer 8

Enzymes are water solbule…only very select hydrophilic molecules can get through BBB