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 |
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|
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
|
|
Term
| What are the levels of lactate in von gierke? |
|
Definition
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|
Term
| What is the deficient enzyme in McArdle's Disease? |
|
Definition
|
|
Term
| What would be true of the lactate levels in type III debrancher defect? |
|
Definition
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|
Term
| What cycle will the muscle do in response to lack of available glucose? |
|
Definition
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|
Term
| What is produced as a biproduct in purine cycle? |
|
Definition
|
|
Term
| What molecule is made in the purine cycle that enters the TCA cycle? |
|
Definition
|
|
Term
| What enzyme produces ammonia in the purine cycle? What does it convert? |
|
Definition
|
|
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
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|
Term
| What happens to a McArdle's patient's heart rate after being treated? |
|
Definition
|
|
Term
| How do you test for McArdle's with biopsy? |
|
Definition
|
|
Term
| What is the inheritance of McArdle's? |
|
Definition
|
|
Term
| What bonds does glycogen phosphorylase break? |
|
Definition
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|
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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