Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Sulfamidase
 
        B) Acetyl CoA:a-glucosaminide-N-acetyltransferase
 
        C) ß-Mannosidase
 
        D) Iduronate-2-sulphatase
 
        E) A-N-acetylgalactosaminidase
 

 

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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) Sulfamidase

This answer is incorrect.

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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B) Acetyl CoA:a-glucosaminide-N-acetyltransferase

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) 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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D) 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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E) a-N-acetylgalactosaminidase

This answer is incorrect.

A-N-acetylgalactosaminidase is an enzyme which is deficient in Schindler disease. This deficiency is associated with a genetic defect at 22q13.1-13.2.  (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