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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

Which of the following disorders is associated with a genetic defect at 17p12?

 
        A) MPS IX
 
        B) Fabry disease
 
        C) Cystinosis
 
        D) MPS IVA
 
        E) Niemann-Pick disease type C
 

 


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This question was created on February 16, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) MPS IX

This answer is incorrect.


Hyaluronidase is an enzyme which is deficient in MPS IX. This deficiency is associated with a genetic defect at 3p21.3.  (See References)

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B) Fabry disease

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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C) Cystinosis

This answer is correct.


Cystinosin is an enzyme which is deficient in Cystinosis. This deficiency is associated with a genetic defect at 17p12.  (See References)

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D) MPS IVA

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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E) Niemann-Pick disease type C

This answer is incorrect.


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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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

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