Sphingolipidoses (Tay-Sachs, Gaucher, Niemann-Pick) US Medical PG Flashcards - Medical Study Cards
Master Sphingolipidoses (Tay-Sachs, Gaucher, Niemann-Pick) 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.
Sphingolipidoses (Tay-Sachs, Gaucher, Niemann-Pick) Flashcard Deck - 9 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 Niemann Pick disease? _____
Answer: Sphingomyelin
Flashcard 3: Which lysosomal storage disease is the most common?_____
Answer: Gaucher disease
Flashcard 4: Which lysosomal storage disease is characterized by a cherry red spot on the macula and hepatosplenomegaly? _____
Answer: Niemann Pick 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
Keywords: Sphingolipidoses (Tay-Sachs, Gaucher, Niemann-Pick) flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
