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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

There is a deficiency in the expression or activity of Sphingomyelinase in which of the following disorders?

 
        A) Danon disease
 
        B) AB variant GM2-gangliosidosis
 
        C) Niemann-Pick disease type A
 
        D) Farber disease
 
        E) Cholesterol ester storage disease
 

 


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This question was created on February 16, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Danon disease

This answer is incorrect.


Lysosomal associated membrane protein-2 (LAMP-2) is an enzyme which is deficient in Danon disease. This deficiency is associated with a genetic defect at Xq24-25.  (See References)

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B) AB variant GM2-gangliosidosis

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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C) Niemann-Pick disease type A

This answer is correct.


Sphingomyelinase is an enzyme which is deficient in Niemann-Pick disease type A. This deficiency is associated with a genetic defect at 11p15.1-15.4.  (See References)

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D) Farber disease

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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E) Cholesterol ester storage disease

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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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

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