Genetic counseling for lysosomal diseases — Flashcards

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 deathARlysosomal 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