Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS IIIA
 
        B) MPS IIID
 
        C) MPS VII
 
        D) Gaucher disease
 
        E) Aspartylglucosaminuria
 

 

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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) MPS IIIA

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) MPS IIID

This answer is incorrect.

N-acetylglucosamine-6-sulfatase is an enzyme which is deficient in MPS IIID (Sanfilippo disease type D). This deficiency is associated with a genetic defect at 12q14.  (See References)

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C) MPS VII

This answer is incorrect.

ß-d-glucoronidase is an enzyme which is deficient in MPS VII (Sly disease). This deficiency is associated with a genetic defect at 7q21.1-22.  (See References)

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D) Gaucher disease

This answer is correct.

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) Aspartylglucosaminuria

This answer is incorrect.

Aspartylglucosamindase is an enzyme which is deficient in Aspartylglucosaminuria. This deficiency is associated with a genetic defect at 4q34-35.  (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