Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) 5q13
 
        B) 17p12
 
        C) 1q21
 
        D) 10q23.2-q23.3
 
        E) 5q32-33
 

 

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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) 5q13

This answer is incorrect.

ß-Subunit ß-hexosaminidase is an enzyme which is deficient in Sandhoff disease. This deficiency is associated with a genetic defect at 5q13.  (See References)

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B) 17p12

This answer is incorrect.

Cystinosin is an enzyme which is deficient in Cystinosis. This deficiency is associated with a genetic defect at 17p12.  (See References)

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C) 1q21

This answer is correct.

Cathepsin K is an enzyme which is deficient in Pycnodysostosis. This deficiency is associated with a genetic defect at 1q21.  (See References)

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D) 10q23.2-q23.3

This answer is incorrect.

Acid lipase is an enzyme which is deficient in Cholesterol ester storage disease (Wolman disease). This deficiency is associated with a genetic defect at 10q23.2-q23.3.  (See References)

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E) 5q32-33

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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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