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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) Neuronal ceroid lipofuscinosis
 
        B) Sialidosis type 1
 
        C) Serine deficiency syndromes
 
        D) Niemann-Pick disease A
 
        E) Molybdenum cofactor deficiency
 

 


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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) Neuronal ceroid lipofuscinosis

This answer is incorrect.


Neuronal ceroid lipofuscinosis is associated with retinopathy  (See References)

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B) Sialidosis type 1

This answer is incorrect.


Sialidosis is associated with a macular cherry red spot  (See References)

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C) Serine deficiency syndromes

This answer is correct.


Cataracts are seen in serine deficiency syndromes  (See References)

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D) 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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E) Molybdenum cofactor deficiency

This answer is incorrect.


Molybdenum cofactor deficiency 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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