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Lysosomal Storage Diseases 02

Topic: Adult

Created on Thursday, November 20 2008 by jdmiles

Last modified on Thursday, November 20 2008.

Which of the following disorders is associated with a genetic defect at 1q21?

 
        A) Gaucher disease
 
        B) Farber disease
 
        C) Krabbe disease
 
        D) Niemann-Pick disease type A
 
        E) Danon disease
 

 


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This question was created on November 20, 2008 by jdmiles.
This question was last modified on November 20, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Gaucher disease

This answer is correct.


-Glucosidase is an enzyme which is deficient in Gaucher disease. This deficiency is associated with a genetic defect at 1q21.  (See References)

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B) Farber disease

This answer is incorrect.


Acid ceramidase is an enzyme which is deficient in Farber disease. This deficiency is associated with a genetic defect at 8p22-21.2.  (See References)

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C) Krabbe disease

This answer is incorrect.


Galactocerebrosidase is an enzyme which is deficient in Krabbe disease. This deficiency is associated with a genetic defect at 14q31.  (See References)

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D) Niemann-Pick disease type A

This answer is incorrect.


Sphingomyelinase is an enzyme which is deficient in Niemann-Pick disease type A. This deficiency is associated with a genetic defect at 11p15.1-15.4.  (See References)

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E) Danon disease

This answer is incorrect.


Lysosomal associated membrane protein-2 (LAMP-2) is an enzyme which is deficient in Danon disease. This deficiency is associated with a genetic defect at Xq24-25.  (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, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 1811-1832.
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adult
Lysosomal Storage Diseases 02
Question ID: 11200801
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/20/2008
Modified: 11/20/2008
Estimated Permutations: 0

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