Refsum Disease 01

Topic: Pediatric

Created on Saturday, October 18 2008 by jdmiles

Last modified on Saturday, October 18 2008.

 
        A) It is a disorder of metal metabolism
 
        B) It is a glycogen storage disorder
 
        C) Typical disease manifestations include gait ataxia, peripheral neuropathy, limb weakness, and night blindness.
 
        D) It results in phytanic acid deficiency
 
        E) It is a disorder of the metabolism of pyruvate
 

 

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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 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 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) typical disease manifestations include gait ataxia, peripheral neuropathy, limb weakness, and night blindness.

This answer is correct.

Characteristic signs and symptoms of Refsum disease include night blindness, limb weakness, gait ataxia, and peripheral neuropathy.  (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 pyruvate

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