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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 also known as heredopathia atactica polyneuritiformis
 
        B) There is no effective means of treatment
 
        C) It is a disorder of the metabolism of pyruvate
 
        D) It results in phytanic acid deficiency
 
        E) It is a disorder of the metabolism of cholesterol
 

 


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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 also known as heredopathia atactica polyneuritiformis

This answer is correct.


Refsum disease is also called heredopathia atactica polyneuritiformis.  (See References)

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B) There is no effective means of treatment

This answer is incorrect.


Phytanic acid is not synthesized in the body. Consequently, dietary restriction can result in successful management of Refsum disease.  (See References)

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C) it is a disorder of the metabolism of pyruvate

This answer is incorrect.


Refsum disease is a disorder of the metabolism of phytanic acid.  (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 cholesterol

This answer is incorrect.


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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