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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

-Galactosidase maps to which of the following genetic loci?

 
        A) 12q14
 
        B) 3p21-3pter
 
        C) 16q24.3
 
        D) Xq27.3-28
 
        E) Xq22
 

 


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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) 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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B) 3p21-3pter

This answer is correct.


-Galactosidase is an enzyme which is deficient in GM1-gangliosidosis. This deficiency is associated with a genetic defect at 3p21-3pter.  (See References)

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C) 16q24.3

This answer is incorrect.


Galactosamine-6-sulphatase is an enzyme which is deficient in MPS IVA (Morquio syndrome type A). This deficiency is associated with a genetic defect at 16q24.3.  (See References)

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D) 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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E) Xq22

This answer is incorrect.


A-Galactosidase A is an enzyme which is deficient in Fabry disease. This deficiency is associated with a genetic defect at Xq22.  (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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