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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) There is no effective means of treatment
 
        B) It is an organic aciduria
 
        C) It is a glycogen storage disorder
 
        D) It is a disorder of metal metabolism
 
        E) It is a peroxisomal disease
 

 


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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) 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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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 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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E) it is a peroxisomal disease

This answer is correct.


Refsum disease is a peroxisomal disease.  (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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