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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

In -Mannosidosis, where is the genetic locus of the defective gene?

 
        A) 3p21.33
 
        B) 4q22-25
 
        C) 6p21.3
 
        D) 11p15.1-15.4
 
        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) 3p21.33

This answer is incorrect.


-d-galactosidase is an enzyme which is deficient in MPS IVB (Morquio syndrome type B). This deficiency is associated with a genetic defect at 3p21.33.  (See References)

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B) 4q22-25

This answer is correct.


-Mannosidase is an enzyme which is deficient in -Mannosidosis. This deficiency is associated with a genetic defect at 4q22-25.  (See References)

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C) 6p21.3

This answer is incorrect.


A-Neuraminidase is an enzyme which is deficient in Sialidosis. This deficiency is associated with a genetic defect at 6p21.3.  (See References)

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D) 11p15.1-15.4

This answer is incorrect.


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