Treatment options (ERT, substrate reduction, chaperones) US Medical PG Flashcards - Medical Study Cards
Master Treatment options (ERT, substrate reduction, chaperones) 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.
Treatment options (ERT, substrate reduction, chaperones) Flashcard Deck - 8 Cards
Flashcard 1: Which lysosomal storage diseases (2) have an X-linked recessive inheritance? _____
Answer: Fabry disease, Hunter syndrome
Flashcard 2: What substrate accumulates in the lysosomes of a patient with Niemann Pick disease? _____
Answer: Sphingomyelin
Flashcard 3: Which lysosomal storage disease is the most common?_____
Answer: Gaucher disease
Flashcard 4: What substrate accumulates in the lysosomes of a patient with Fabry disease? _____
Answer: Ceramide trihexoside (globotriaosylceramide)
Flashcard 5: Describe, in general, the lysosomal storage diseases.
Answer: Diverse group of diseases resulting from defects in lysosomal enzymes, characterized by an accumulation of abnormal metabolic products within cells.
Flashcard 6: Pompe's disease (GSD type II)
Answer:
Extra: heart, liver, muscle manifestations, esp. cardiomegaly; early death AR lysosomal α-1,4-glucosidase (acid maltase) mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)
Flashcard 7: Where does mannose-6-phosphate tagging occur?
Answer: Golgi
Flashcard 8: A mannose-6-phosphate tag targets proteins for where?
Answer: lysosome
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