Activator protein deficiencies US Medical PG Flashcards - Medical Study Cards
Master Activator protein 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.
Activator protein deficiencies Flashcard Deck - 10 Cards
Flashcard 1: What is the mode of inheritance of Tay-Sachs disease?_____
Answer: Autosomal recessive
Flashcard 2: Which lysosomal storage disease is characterized by a cherry red spot on the macula and no hepatosplenomegaly? _____
Answer: Tay-Sachs disease
Flashcard 3: A ceramide attached to phosphate and choline is a _____
Answer: sphingomyelin
Flashcard 4: Which lysosomal storage disease is the most common?_____
Answer: Gaucher disease
Flashcard 5: Which lysosomal storage disease is characterized by a cherry red spot on the macula and hepatosplenomegaly? _____
Answer: Niemann Pick disease
Flashcard 6: _____ is a lysosomal storage disease caused by splice site mutations.
Answer: Gaucher disease
Flashcard 7: GM2 ganglioside is converted to GM3 via the enzyme _____
Answer: hexosaminidase A
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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