Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) 14q31
 
        B) 12q14
 
        C) Xq22
 
        D) 1p34.1-36.1
 
        E) 22q13.31-qter
 

 

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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) 14q31

This answer is correct.

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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B) 12q14

This answer is incorrect.

N-acetylglucosamine-6-sulfatase is an enzyme which is deficient in MPS IIID (Sanfilippo disease type D). This deficiency is associated with a genetic defect at 12q14.  (See References)

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C) Xq22

This answer is incorrect.

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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D) 1p34.1-36.1

This answer is incorrect.

A-Fucosidase is an enzyme which is deficient in a-Fucosidosis. This deficiency is associated with a genetic defect at 1p34.1-36.1.  (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 01
Question ID: 02160701
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/16/2007
Modified:
Estimated Permutations: 0