FrontalCortex, Inc. is a non-profit corporation dedicated to neurology education.

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 an organic aciduria
 
        B) Dietary restriction allows for successful management of the disease
 
        C) It is a disorder of metal metabolism
 
        D) Typical early symptoms include gait ataxia, seizures, peripheral neuropathy, and limb weakness.
 
        E) It is a disorder of the metabolism of pyruvate
 

 


Back to the question = Go back to the top of the page.
See another question like this one = Reload a different version of this question ().
Click here for a random question = Load a random question from the database.
Clone this question = Use this question as a template to create a totally NEW question.
Rate this question = Enter detailed rating for this question!
Average user rating for this question = 3 = How users like you have rated this question.
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 an organic aciduria

This answer is incorrect.


Refsum disease is a peroxisomal disease resulting in abnormal lipid storage.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 3
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




B) 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)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 3
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




C) it is a disorder of metal metabolism

This answer is incorrect.


Refsum disease is a peroxisomal disease resulting in abnormal lipid storage.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 3
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




D) typical early symptoms include gait ataxia, seizures, peripheral neuropathy, and limb weakness.

This answer is incorrect.


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

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 3
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




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)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 3
Please log in if you want to rate questions.

 

 

 

 

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:
Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 3
Please log in if you want to rate questions.

 

FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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

User Comments About This Question:

0 user entries
Please log in if you'd like to add a comment.