Genetic counseling for lysosomal diseases US Medical PG Flashcards - Medical Study Cards
Master Genetic counseling for lysosomal diseases 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.
Genetic counseling for lysosomal diseases Flashcard Deck - 8 Cards
Flashcard 1: If a male has an X-linked recessive disease, all of his daughters will be _____
Answer: carriers
Flashcard 2: _____ is a lysosomal storage disease caused by frameshift mutations.
Answer: Tay-Sachs
Flashcard 3: What is the mode of inheritance of Fabry disease?_____
Answer: X-linked recessive
Flashcard 4: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____
Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)
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
Keywords: Genetic counseling for lysosomal diseases flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
