Refsum Disease 01

Topic: Pediatric

Created on Saturday, October 18 2008 by jdmiles

Last modified on Saturday, October 18 2008.

 
        A) There is no effective means of treatment
 
        B) It is a glycogen storage disorder
 
        C) Enzyme replacement therapy is the only effective means of treatment
 
        D) It results in phytanic acid deficiency
 
        E) Dietary restriction allows for successful management of the 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

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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 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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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) dietary restriction allows for successful management of the disease

This answer is correct.

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