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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

GM2 activator maps to which of the following genetic loci?

 
        A) 15q23-24
 
        B) 5q32-33
 
        C) Xq27.3-28
 
        D) 17p12
 
        E) 12q14
 

 


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This question was created on February 16, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) 15q23-24

This answer is incorrect.


A-Subunit -hexosaminidase is an enzyme which is deficient in Tay-Sachs disease. This deficiency is associated with a genetic defect at 15q23-24.  (See References)

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B) 5q32-33

This answer is correct.


GM2 activator is an enzyme which is deficient in AB variant GM2-gangliosidosis. This deficiency is associated with a genetic defect at 5q32-33.  (See References)

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C) Xq27.3-28

This answer is incorrect.


Iduronate-2-sulphatase is an enzyme which is deficient in MPS II (Hunter syndrome). This deficiency is associated with a genetic defect at Xq27.3-28.  (See References)

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D) 17p12

This answer is incorrect.


Cystinosin is an enzyme which is deficient in Cystinosis. This deficiency is associated with a genetic defect at 17p12.  (See References)

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E) 12q14

This answer is incorrect.


N-acetylglucosamine-6-sulfatase is an enzyme which is deficient in MPS IIID (Sanfilippo disease type D). This deficiency is associated with a genetic defect at 12q14.  (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 01
Question ID: 02160701
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/16/2007
Modified:
Estimated Permutations: 0

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