Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Gaucher disease
 
        B) Infantile free sialic acid storage disase
 
        C) AB variant GM2-gangliosidosis
 
        D) MPS VII
 
        E) Niemann-Pick disease type A
 

 

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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) Gaucher disease

This answer is incorrect.

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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B) Infantile free sialic acid storage disase

This answer is incorrect.

Sialin is an enzyme which is deficient in Infantile free sialic acid storage disase (Sialuria). This deficiency is associated with a genetic defect at 6q14-15.  (See References)

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C) 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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D) 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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E) 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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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