Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) GM2 activator
 
        B) N-acetylglucosamine-1-phosphotransferase
 
        C) Sphingomyelinase
 
        D) ß-Glucosidase
 
        E) ß-d-galactosidase
 

 

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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) GM2 activator

This answer is incorrect.

GM2 activator is an enzyme which is deficient in AB variant GM2-gangliosidosis. This deficiency is associated with a genetic defect at 5q32-33.  (See References)

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B) 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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C) Sphingomyelinase

This answer is correct.

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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D) ß-Glucosidase

This answer is incorrect.

ß-Glucosidase is an enzyme which is deficient in Gaucher disease. This deficiency is associated with a genetic defect at 1q21.  (See References)

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E) ß-d-galactosidase

This answer is incorrect.

ß-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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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