Lysosomal membrane protein disorders US Medical PG Flashcards - Medical Study Cards
Master Lysosomal membrane protein disorders 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 membrane protein disorders Flashcard Deck - 9 Cards
Flashcard 1: Which lysosomal storage diseases (2) have an X-linked recessive inheritance? _____
Answer: Fabry disease, Hunter syndrome
Flashcard 2: Which lysosomal storage disease is the most common?_____
Answer: Gaucher disease
Flashcard 3: Which inherited lysosomal storage disorder is characterized by coarse facial features, clouded corneas, and restricted joint movement with high serum levels of multiple lysosomal enzymes? _____
Answer: I-cell disease
Flashcard 4: _____ is a lysosomal storage disease caused by splice site mutations.
Answer: Gaucher disease
Flashcard 5: What is the mode of inheritance of Niemann Pick disease?_____
Answer: Autosomal recessive
Flashcard 6: 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 7: 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 8: Where does mannose-6-phosphate tagging occur?
Answer: Golgi
Flashcard 9: A mannose-6-phosphate tag targets proteins for where?
Answer: lysosome
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