Shared Flashcard Set

Details

McArdle's Disease
MS Module
19
Medical
Graduate
05/16/2009

Additional Medical Flashcards

 


 

Cards

Term
What is the result of the normal non-ischemic lactate forearm test?
Definition

increase in lactic acid 5-6x

slight increase in ammonia

Term
What is the result of the non-ischemeic lactate forearm test in a pateint with a glycogeneosis disease?
Definition

lactate levels will not rise

ammonia will rise significantly

Term
What is the enzyme deficient in Pompe Type II Glycogen storage disease?  What is the result of having the disease?
Definition

lysosomal alpha 1,4 glocosidase

 

early infant death

Term
What is type VII glycogen storage disease?
Definition

PFK1 deficiency

 

very severe

Term
What enzyme is deficient in type I von gierke disease?
Definition
glucose 6 phosphatase
Term
What are the levels of lactate in von gierke?
Definition
very elevated
Term
What is the deficient enzyme in McArdle's Disease?
Definition
glycogen phosphatase
Term
What would be true of the lactate levels in type III debrancher defect?
Definition
normal lactate levels
Term
What cycle will the muscle do in response to lack of available glucose?
Definition
purine cycle
Term
What is produced as a biproduct in purine cycle?
Definition
ammonia
Term
What molecule is made in the purine cycle that enters the TCA cycle?
Definition
fumarate
Term
What enzyme produces ammonia in the purine cycle?  What does it convert?
Definition

AMP to IMP

 

AMP deaminase

Term
How would you differentiate a AMP deaminase deficiency from a normal person?
Definition
lower levels of ammonia when exercising
Term
What is the treatment for McArdle's?
Definition
sucrose
Term
What happens to a McArdle's patient's heart rate after being treated?
Definition
decreases
Term
How do you test for McArdle's with biopsy?
Definition
stain for phosphorylase
Term
What is the inheritance of McArdle's?
Definition
AR
Term
What bonds does glycogen phosphorylase break?
Definition
alpha 1,4
Term
After treatment of McArdle's what is the result of the lactate  forearm test?
Definition

lactate still goes down a bit

ammonia does not go up as much

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