Refsum Disease 01

Topic: Pediatric

Created on Saturday, October 18 2008 by jdmiles

Last modified on Saturday, October 18 2008.

 
        A) Dietary restriction allows for successful management of the disease
 
        B) It is a disorder of the metabolism of very long chain fatty acids
 
        C) It is a glycogen storage disorder
 
        D) Typical early symptoms include limb weakness, gait ataxia, seizures, and peripheral neuropathy.
 
        E) It is a disorder of metal metabolism
 

 

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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) 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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B) it is a disorder of the metabolism of very long chain fatty acids

This answer is incorrect.

Refsum disease is a disorder of the metabolism of phytanic acid.  (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) typical early symptoms include limb weakness, gait ataxia, seizures, and peripheral neuropathy.

This answer is incorrect.

Seizures do not typically occur as a result of Refsum disease.  (See References)

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E) 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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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