Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Tay-Sachs disease
 
        B) Niemann-Pick disease type B
 
        C) Farber disease
 
        D) Gaucher disease
 
        E) MPS I
 

 

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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) 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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B) Niemann-Pick disease type B

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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C) Farber disease

This answer is correct.

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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D) 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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E) MPS I

This answer is incorrect.

A-L-iduronidase is an enzyme which is deficient in MPS I (Hurler syndrome). This deficiency is associated with a genetic defect at 4p16.3.  (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