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

1/17

Click to flip

17 Cards in this Set

  • Front
  • Back
glycogen storage diseases
usually have a decreased ability to break it down, than an increased ability to synthesize it
are usually AR
two broad groups, those effecting liver and those effecting muscle
For someone with type Ia glycogen storage disease (G-6-P Phosphatase deficiency)
why do you see glycogen accumulation in the liver (biochemically specific answer)
you get a build up of G6P which cant be converted to glucose. G6P is an allosteric acitvator of glycogen synthase
in G6P deficiency why would decreased Pi lead to urate formation
Less Pi (which is trapped as G6P + intermediates) means have more AMP relative to ATP.

Pi is normally the brake on AMP deaminase(forms IMP). which means get higher urate formation
Von Gierke

Deficiency
Type
Deficiency - G6P

Type - Ia
Pompe

Deficiency
Type
Deficiency - lysosomal acid glucosidase

Type - II
Cori

Deficiency
Type
Deficiency - debranching enzyme, both actions
Type - III

IIIa in liver and muscle
IIIb in liver only
Andersons

Deficiency
Type
Deficiency - branching enzyme liver
Type - IV
McArdle

Deficiency
Type
Deficiency - muscle phosphorylase
Type - V
Hers
Deficiency - liver phosphorylase
Type - VI
Tauri
Deficiency
Type
Deficiency - muscle PFK
Type - VII
IX type

Deficiency
Deficiency - phosphorylase kinase
death in infancy from cardiac failure, muscle weakness, cardiomegaly
POMPE
Exercise intolerance, blood lactate doesnt rise after anaerobic exercise
McArdle - V, muscle phosphorylase
Accumulated glycogen with abnormal structure, progressive hepatomegaly, death in early childhood from liver cirrhosis
Andersons branching enzy IV
sever exercise intolerance and muscle cramps, RBC show some percentage of normal activity
Tarui VII muscle PFK
mild fasting hypoglycemia, hepatomegaly
Hers disease VI liver phosphorylase
mild hepatomegaly, fasting hypoglycemia, lactic acidemia, hyperuricemia, accumulated glycogen has abnormal strucuture, liver fibrosis or cirrhosis, muscle weakness if muscle involved
Cori, debranching enzyme III