Diagnostic approaches — Flashcards

Flashcard 1: What substrate accumulates in the lysosomes of a patient with Niemann Pick disease? _____

Answer: Sphingomyelin

Flashcard 2: What substrate accumulates in the lysosomes of a patient with Tay-Sachs disease? _____

Answer: GM2 ganglioside

Flashcard 3: _____ is a lysosomal storage disease caused by frameshift mutations.

Answer: Tay-Sachs

Flashcard 4: _____ is a laboratory technique used for specific localization of genes and direct visualization of chromosomal anomalies

Answer: Fluoresence in situ hybridization (FISH)

Flashcard 5: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____

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

Flashcard 6: Which lysosomal storage disease is characterized by a cherry red spot on the macula and hepatosplenomegaly? _____

Answer: Niemann Pick 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