Lipid storage diseases US Medical PG Flashcards - Medical Study Cards
Master Lipid storage diseases 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.
Lipid storage diseases Flashcard Deck - 8 Cards
Flashcard 1: Which lysosomal storage disease is characterized by a cherry red spot on the macula and no hepatosplenomegaly? _____
Answer: Tay-Sachs disease
Flashcard 2: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____
Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)
Flashcard 3: Which lysosomal storage disease is characterized by a cherry red spot on the macula and hepatosplenomegaly? _____
Answer: Niemann Pick disease
Flashcard 4: _____ is a lysosomal storage disease caused by splice site mutations.
Answer: Gaucher disease
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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