Refsum Disease 01

Topic: Pediatric

Created on Saturday, October 18 2008 by jdmiles

Last modified on Saturday, October 18 2008.

 
        A) It is a lipid storage disorder
 
        B) There is no effective means of treatment
 
        C) It is a disorder of the metabolism of pyruvate
 
        D) It is a glycogen storage disorder
 
        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

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A) it is a lipid storage disorder

This answer is correct.

Refsum disease is a lipid storage disorder.  (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 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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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