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Refsum Disease 01

Topic: Pediatric

Created on Saturday, October 18 2008 by jdmiles

Last modified on Saturday, October 18 2008.

Which of the following statements about Refsum disease is most accurate?

 
        A) It is a disorder of metal metabolism
 
        B) It is an organic aciduria
 
        C) It is a glycogen storage disorder
 
        D) It results in phytanic acid deficiency
 
        E) It is a disorder of the metabolism of phytanic acid
 

 


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This question was created on October 18, 2008 by jdmiles.
This question was last modified on October 18, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) it is a disorder of metal metabolism

This answer is incorrect.


Refsum disease is a peroxisomal disease resulting in abnormal lipid storage.  (See References)

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B) it is an organic aciduria

This answer is incorrect.


Refsum disease is a peroxisomal disease resulting in abnormal lipid storage.  (See References)

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C) it is a glycogen storage disorder

This answer is incorrect.


Refsum disease is a peroxisomal disease resulting in abnormal lipid storage.  (See References)

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D) it results in phytanic acid deficiency

This answer is incorrect.


Refsum disease results in impaired metabolism of phytanic acid, not deficiency of phytanic acid.  (See References)

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E) it is a disorder of the metabolism of phytanic acid

This answer is correct.


Refsum disease is a disorder of the metabolism of phytanic acid.  (See References)

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References:

1. Rowland, L.P. (Ed) (2000). Merritt's Neurology, 10th Edition. Lippincott Williams & Wilkins, Philadelphia. (ISBN:0683304747)Advertising:
2. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia. (ISBN:1416001697)Advertising:
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pediatric
Refsum Disease 01
Question ID: 101808142
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/18/2008
Modified: 10/18/2008
Estimated Permutations: 176400

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