Clinical presentation patterns — Flashcards

Flashcard 1: Which lysosomal storage disease is characterized by a cherry red spot on the macula and no hepatosplenomegaly? _____

Answer: Tay-Sachs disease

Flashcard 2: What is the mode of inheritance of glycogen storage diseases?_____

Answer: Autosomal recessive

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: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____

Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)

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: 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 8: 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 9: Where does mannose-6-phosphate tagging occur?

Answer: Golgi

Flashcard 10: A mannose-6-phosphate tag targets proteins for where?

Answer: lysosome