Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS IX
 
        B) Cholesterol ester storage disease
 
        C) Krabbe disease
 
        D) Schindler disease
 
        E) Tay-Sachs disease
 

 

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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 IX

This answer is correct.

Hyaluronidase is an enzyme which is deficient in MPS IX. This deficiency is associated with a genetic defect at 3p21.3.  (See References)

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B) 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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C) Krabbe disease

This answer is incorrect.

Galactocerebrosidase is an enzyme which is deficient in Krabbe disease. This deficiency is associated with a genetic defect at 14q31.  (See References)

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D) Schindler disease

This answer is incorrect.

A-N-acetylgalactosaminidase is an enzyme which is deficient in Schindler disease. This deficiency is associated with a genetic defect at 22q13.1-13.2.  (See References)

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E) Tay-Sachs disease

This answer is incorrect.

A-Subunit ß-hexosaminidase is an enzyme which is deficient in Tay-Sachs disease. This deficiency is associated with a genetic defect at 15q23-24.  (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