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Inborn Errors of Metabolism 02

Topic: Pediatric

Created on Saturday, September 15 2007 by jdmiles

Last modified on Saturday, September 15 2007.

Which of the following disorders is associated with cataracts?

 
        A) Niemann-Pick disease A
 
        B) Adrenoleukodystrophy
 
        C) Lowe syndrome
 
        D) Sulfite oxidase deficiency
 
        E) Homocystinuria
 

 


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This question was created on September 15, 2007 by jdmiles.
This question was last modified on September 15, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Niemann-Pick disease A

This answer is incorrect.


Niemann-Pick disease A is associated with a macular cherry red spot  (See References)

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B) Adrenoleukodystrophy

This answer is incorrect.


Adrenoleukodystrophy is associated with optic atrophy  (See References)

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C) Lowe syndrome

This answer is correct.


Cataracts are seen in Lowe syndrome  (See References)

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D) Sulfite oxidase deficiency

This answer is incorrect.


Sulfite oxidase deficiency is associated with lens discoloration  (See References)

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E) Homocystinuria

This answer is incorrect.


Homocystinuria is associated with lens discoloration  (See References)

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References:

1. Pastores, G.M. and Kolodny, E.H. (2004). Inborn errors of metabolism of the nervous system. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1811-1832.
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pediatric
Inborn Errors of Metabolism 02
Question ID: 091507200
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/15/2007
Modified: 09/15/2007
Estimated Permutations: 1638000

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