Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) 1p34.1-36.1
 
        B) 18q11-12 and 14q24.3
 
        C) 17q25.3
 
        D) 6q14-15
 
        E) 5q13
 

 

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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) 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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B) 18q11-12 and 14q24.3

This answer is correct.

NPC1 and HE1 is an enzyme which is deficient in Niemann-Pick disease type C. This deficiency is associated with a genetic defect at 18q11-12 and 14q24.3.  (See References)

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C) 17q25.3

This answer is incorrect.

Sulfamidase is an enzyme which is deficient in MPS IIIA (Sanfilippo disease type A). This deficiency is associated with a genetic defect at 17q25.3.  (See References)

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D) 6q14-15

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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E) 5q13

This answer is incorrect.

ß-Subunit ß-hexosaminidase is an enzyme which is deficient in Sandhoff disease. This deficiency is associated with a genetic defect at 5q13.  (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