Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS IIID
 
        B) MPS IV
 
        C) MPS IIIC
 
        D) Sialidosis
 
        E) MPS IIIA
 

 

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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) MPS IIID

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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B) MPS IV

This answer is incorrect.

N-acetylgalactosamine-4-sulfatase is an enzyme which is deficient in MPS IV (Maroteaux-Lamy disease). This deficiency is associated with a genetic defect at 5q13-14.  (See References)

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C) MPS IIIC

This answer is incorrect.

Acetyl CoA:a-glucosaminide-N-acetyltransferase is an enzyme which is deficient in MPS IIIC (Sanfilippo disease type C)  (See References)

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D) Sialidosis

This answer is incorrect.

A-Neuraminidase is an enzyme which is deficient in Sialidosis. This deficiency is associated with a genetic defect at 6p21.3.  (See References)

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E) MPS IIIA

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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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