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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

There is a deficiency in the expression or activity of Acetyl CoA:a-glucosaminide-N-acetyltransferase in which of the following disorders?

 
        A) Pycnodysostosis
 
        B) MPS IIIC
 
        C) MPS IIIB
 
        D) A-Mannosidosis
 
        E) Krabbe disease
 

 


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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Pycnodysostosis

This answer is incorrect.


Cathepsin K is an enzyme which is deficient in Pycnodysostosis. This deficiency is associated with a genetic defect at 1q21.  (See References)

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B) MPS IIIC

This answer is correct.


Acetyl CoA:a-glucosaminide-N-acetyltransferase is an enzyme which is deficient in MPS IIIC (Sanfilippo disease type C)  (See References)

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C) MPS IIIB

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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D) a-Mannosidosis

This answer is incorrect.


A-Mannosidase is an enzyme which is deficient in a-Mannosidosis. This deficiency is associated with a genetic defect at 19p13.2-q12.  (See References)

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E) 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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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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