Inborn Errors of Metabolism 02

Topic: Pediatric

Created on Saturday, September 15 2007 by jdmiles

Last modified on Saturday, September 15 2007.

 
        A) Neuronal ceroid lipofuscinosis
 
        B) Galactosemia
 
        C) Sulfite oxidase deficiency
 
        D) Tay-Sachs disease
 
        E) Carbohydrate-deficient glycoprotein syndrome
 

 

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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) Neuronal ceroid lipofuscinosis

This answer is incorrect.

Neuronal ceroid lipofuscinosis is associated with retinopathy  (See References)

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B) Galactosemia

This answer is correct.

Cataracts are seen in galactosemia  (See References)

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C) Sulfite oxidase deficiency

This answer is incorrect.

Sulfite oxidase deficiency is associated with lens discoloration  (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) Carbohydrate-deficient glycoprotein syndrome

This answer is incorrect.

Carbohydrate-deficient glycoprotein syndrome is associated with retinopathy
  (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