Inborn Errors of Metabolism 02

Topic: Pediatric

Created on Saturday, September 15 2007 by jdmiles

Last modified on Saturday, September 15 2007.

 
        A) Molybdenum cofactor deficiency
 
        B) Homocystinuria
 
        C) Hyperornithinemia with gyrate atrophy
 
        D) Neuronal ceroid lipofuscinosis
 
        E) Cerebrotendinous xanthomatosis
 

 

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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

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A) Molybdenum cofactor deficiency

This answer is incorrect.

Molybdenum cofactor deficiency is associated with lens discoloration  (See References)

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B) Homocystinuria

This answer is incorrect.

Homocystinuria is associated with lens discoloration  (See References)

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C) Hyperornithinemia with gyrate atrophy

This answer is incorrect.

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

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D) Neuronal ceroid lipofuscinosis

This answer is incorrect.

Neuronal ceroid lipofuscinosis is associated with retinopathy  (See References)

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E) Cerebrotendinous xanthomatosis

This answer is correct.

Cataracts are seen in cerebrotendinous xanthomatosis  (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