Lysosomal Storage Diseases 02

Topic: Adult

Created on Thursday, November 20 2008 by jdmiles

Last modified on Thursday, November 20 2008.

 
        A) Xq22
 
        B) 8p22-21.2
 
        C) 14q31
 
        D) 11p15.1-15.4
 
        E) 22q13.31-qter
 

 

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This question was created on November 20, 2008 by jdmiles.
This question was last modified on November 20, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Xq22

This answer is correct.

A-Galactosidase A is an enzyme which is deficient in Fabry disease. This deficiency is associated with a genetic defect at Xq22.  (See References)

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B) 8p22-21.2

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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C) 14q31

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) 11p15.1-15.4

This answer is incorrect.

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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E) 22q13.31-qter

This answer is incorrect.

Arylsulphatase A (galactose-3-sulphatase) is an enzyme which is deficient in Metachromatic leukodystrophy. This deficiency is associated with a genetic defect at 22q13.31-qter.  (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 02
Question ID: 11200801
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/20/2008
Modified: 11/20/2008
Estimated Permutations: 0