GSD type II (Pompe disease) — Flashcards

Flashcard 1: Which lysosomal storage diseases (2) have an X-linked recessive inheritance? _____

Answer: Fabry disease, Hunter syndrome

Flashcard 2: _____ is a lysosomal storage disease caused by frameshift mutations.

Answer: Tay-Sachs

Flashcard 3: Which lysosomal storage disease is the most common?_____

Answer: Gaucher disease

Flashcard 4: Which glycogen storage disorder is associated with accumulation of limit dextrin-like structures? _____

Answer: Cori disease

Flashcard 5: Once absorbed, gliadin is deamidated by the enzyme _____

Answer: tissue transglutaminase (tTG)

Flashcard 6: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____

Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)

Flashcard 7: _____ is a lysosomal storage disease caused by splice site mutations.

Answer: Gaucher disease

Flashcard 8: glycogen synthesis

Answer: glycogen synthase

Flashcard 9: glycogenolysis

Answer: glycogen phosphorylase

Flashcard 10: McArdle's disease (GSD type V)

Answer:

Extra: painful muscle cramps, myoglobinuria with strenuous exerciseglycogen accumulation in muscleARskeletal muscle glycogen phosphorylasemnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)