Glycoproteinoses US Medical PG Flashcards - Medical Study Cards
Master Glycoproteinoses 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.
Glycoproteinoses Flashcard Deck - 10 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: What substrate accumulates in the lysosomes of a patient with Tay-Sachs disease? _____
Answer: GM2 ganglioside
Flashcard 3: Which lysosomal storage disease is the most common?_____
Answer: Gaucher disease
Flashcard 4: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____
Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)
Flashcard 5: _____ is a lysosomal storage disease caused by splice site mutations.
Answer: Gaucher disease
Flashcard 6: Which inherited lysosomal storage disorder can present with gingival hyperplasia, claw hand deformities, and kyphoscoliosis?_____
Answer: I-cell disease
Flashcard 7: Which glycogen storage disorder is associated with increased glycogen in muscle? _____
Answer: McArdle disease
Flashcard 8: 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 9: 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 10: Where does mannose-6-phosphate tagging occur?
Answer: Golgi
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