Lysosomal enzyme deficiencies US Medical PG Flashcards - Medical Study Cards
Master Lysosomal enzyme deficiencies 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.
Lysosomal enzyme deficiencies Flashcard Deck - 8 Cards
Flashcard 1: What is the mode of inheritance of Hurler syndrome?_____
Answer: Autosomal recessive
Flashcard 2: Which lysosomal storage disease is the most common?_____
Answer: Gaucher disease
Flashcard 3: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____
Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)
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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