Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) ß-d-glucoronidase
 
        B) Acid ceramidase
 
        C) Aspartylglucosamindase
 
        D) A-Galactosidase A
 
        E) Sphingomyelinase
 

 

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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-d-glucoronidase

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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B) 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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C) Aspartylglucosamindase

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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D) a-Galactosidase A

This answer is correct.

A-Galactosidase A is an enzyme which is deficient in Fabry disease. This deficiency is associated with a genetic defect at Xq22.  (See References)

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E) Sphingomyelinase

This answer is incorrect.

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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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