Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) 10q23.2-q23.3
 
        B) 5q13
 
        C) 16q24.3
 
        D) 11p15.1-15.4
 
        E) 12q14
 

 

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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) 10q23.2-q23.3

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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B) 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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C) 16q24.3

This answer is incorrect.

Galactosamine-6-sulphatase is an enzyme which is deficient in MPS IVA (Morquio syndrome type A). This deficiency is associated with a genetic defect at 16q24.3.  (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 B. This deficiency is associated with a genetic defect at 11p15.1-15.4.  (See References)

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E) 12q14

This answer is correct.

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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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