GSD type II (Pompe disease) US Medical PG Flashcards - Medical Study Cards
Master GSD type II (Pompe disease) with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
GSD type II (Pompe disease) Flashcard Deck - 10 Cards
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 exercise glycogen accumulation in muscle AR skeletal muscle glycogen phosphorylase mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)
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