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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) Hyperornithinemia with gyrate atrophy
 
        B) Galactosialidosis
 
        C) Tyrosinemia type II
 
        D) Tay-Sachs disease
 
        E) Niemann-Pick disease A
 

 


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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) Hyperornithinemia with gyrate atrophy

This answer is incorrect.


Hyperornithinemia with gyrate atrophy is associated with optic atrophy
  (See References)

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B) Galactosialidosis

This answer is incorrect.


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

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C) Tyrosinemia type II

This answer is correct.


Cataracts are seen in tyrosinemia type II  (See References)

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D) Tay-Sachs disease

This answer is incorrect.


Tay-Sachs disease is associated with a macular cherry red spot  (See References)

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E) 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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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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