Activator protein deficiencies — Flashcards

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 deathARlysosomal 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