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Lysosomal Storage Diseases 01

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on .

Which of the following enzymes is associated with gene locus 4p16.3?

 
        A) Galactocerebrosidase
 
        B) A-L-iduronidase
 
        C) Acid ceramidase
 
        D) A-N-acetylglucosamindase
 
        E) N-acetylglucosamine-1-phosphotransferase
 

 


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This question was created on February 17, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Galactocerebrosidase

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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B) a-L-iduronidase

This answer is correct.


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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C) Acid ceramidase

This answer is incorrect.


Acid ceramidase is an enzyme which is deficient in Farber disease. This deficiency is associated with a genetic defect at 8p22-21.2.  (See References)

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D) a-N-acetylglucosamindase

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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E) N-acetylglucosamine-1-phosphotransferase

This answer is incorrect.


N-acetylglucosamine-1-phosphotransferase is an enzyme which is deficient in Mucolipidosis II (I-cell disease). This deficiency is associated with a genetic defect at 4q21-q23.  (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: 02/17/2007
Modified:
Estimated Permutations: 0

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