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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 may result in death from cardiac arrhythmia
 
        C) Enzyme replacement therapy is the only effective means of treatment
 
        D) It results in phytanic acid deficiency
 
        E) There is no effective means of treatment
 

 


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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 may result in death from cardiac arrhythmia

This answer is correct.


Patients with Refsum disease may suddenly die from cardiac arrhythmia.  (See References)

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C) Enzyme replacement therapy is the only 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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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) 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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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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