Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) ß-Mannosidase
 
        B) A-N-acetylglucosamindase
 
        C) Sulfamidase
 
        D) A-Subunit ß-hexosaminidase
 
        E) Iduronate-2-sulphatase
 

 

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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) ß-Mannosidase

This answer is incorrect.

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

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B) 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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C) Sulfamidase

This answer is correct.

Sulfamidase is an enzyme which is deficient in MPS IIIA (Sanfilippo disease type A). This deficiency is associated with a genetic defect at 17q25.3.  (See References)

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D) a-Subunit ß-hexosaminidase

This answer is incorrect.

A-Subunit ß-hexosaminidase is an enzyme which is deficient in Tay-Sachs disease. This deficiency is associated with a genetic defect at 15q23-24.  (See References)

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E) Iduronate-2-sulphatase

This answer is incorrect.

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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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