Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Xq27.3-28
 
        B) 4p16.3
 
        C) 4q22-25
 
        D) 1q21
 
        E) 1p32
 

 

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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) Xq27.3-28

This answer is incorrect.

Iduronate-2-sulphatase is an enzyme which is deficient in MPS II (Hunter syndrome). This deficiency is associated with a genetic defect at Xq27.3-28.  (See References)

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B) 4p16.3

This answer is correct.

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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C) 4q22-25

This answer is incorrect.

ß-Mannosidase is an enzyme which is deficient in ß-Mannosidosis. This deficiency is associated with a genetic defect at 4q22-25.  (See References)

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D) 1q21

This answer is incorrect.

Cathepsin K is an enzyme which is deficient in Pycnodysostosis. This deficiency is associated with a genetic defect at 1q21.  (See References)

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E) 1p32

This answer is incorrect.

Palmitoyl-protein thioesterase is an enzyme which is deficient in Infantile neuronal ceroid-lipofuscinosis. This deficiency is associated with a genetic defect at 1p32.  (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