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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

In MPS II, where is the genetic locus of the defective gene?

 
        A) 17q23
 
        B) 17q21.1
 
        C) Xq27.3-28
 
        D) 4p16.3
 
        E) 4q34-35
 

 


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This question was created on February 16, 2007 by jdmiles.
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ANSWERS AND EXPLANATIONS




A) 17q23

This answer is incorrect.


A-d glucosidase is an enzyme which is deficient in Glycogen storage disease IIA (Pompe disease). This deficiency is associated with a genetic defect at 17q23.  (See References)

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B) 17q21.1

This answer is incorrect.


A-N-acetylglucosamindase is an enzyme which is deficient in MPS IIIB (Sanfilippo disease type B). This deficiency is associated with a genetic defect at 17q21.1.  (See References)

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C) Xq27.3-28

This answer is correct.


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) 4p16.3

This answer is incorrect.


A-L-iduronidase is an enzyme which is deficient in MPS I (Hurler syndrome). This deficiency is associated with a genetic defect at 4p16.3.  (See References)

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E) 4q34-35

This answer is incorrect.


Aspartylglucosamindase is an enzyme which is deficient in Aspartylglucosaminuria. This deficiency is associated with a genetic defect at 4q34-35.  (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:
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