Lysosomal membrane protein disorders — Flashcards

Flashcard 1: Which lysosomal storage diseases (2) have an X-linked recessive inheritance? _____

Answer: Fabry disease, Hunter syndrome

Flashcard 2: Which lysosomal storage disease is the most common?_____

Answer: Gaucher disease

Flashcard 3: Which inherited lysosomal storage disorder is characterized by coarse facial features, clouded corneas, and restricted joint movement with high serum levels of multiple lysosomal enzymes? _____

Answer: I-cell disease

Flashcard 4: _____ is a lysosomal storage disease caused by splice site mutations.

Answer: Gaucher 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 deathARlysosomal 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