Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/3

Click to flip

3 Cards in this Set

  • Front
  • Back
Tay Sachs

Enzyme def?
Accumulated substrate?
Symptoms?
Enzyme def: Hexosaminidase A

Accumulated substrate: Ganglioside GM2

Symptoms: Red macula spots blindness, psychomotor retardation

death by 2y
Gaucher

Enzyme def?
Accumulated substrate?
Symptoms?
Enzyme def: Glucocerbrosidase

Accumulated substrate: Glucocerebroside

Symptoms: H/Smegaly, pancytopenia, bone erosion, CRUMPLED PAPER INCLUSIONS

enzyme therapy useful
Nieman Pick

Enzyme def?
Accumulated substrate?
Symptoms?
Enzyme def: Sphingomyelinase

Accumulated substrate: Sphimgomyelin

Symptoms: Red macula spots, microcephaly, foamy macrophages, h/smegaly