Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Pompe disease
 
        B) Maroteaux-Lamy disease
 
        C) Sialuria
 
        D) Sanfilippo disease type D
 
        E) I-cell disease
 

 

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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) Pompe disease

This answer is incorrect.

A-d glucosidase is an enzyme which is deficient in Glycogen storage disease IIA (Pompe disease). This deficiency is associated with a genetic defect at 17q23.  (See References)

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B) Maroteaux-Lamy disease

This answer is correct.

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) Sialuria

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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D) Sanfilippo disease type D

This answer is incorrect.

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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E) I-cell disease

This answer is incorrect.

N-acetylglucosamine-1-phosphotransferase is an enzyme which is deficient in Mucolipidosis II (I-cell disease). This deficiency is associated with a genetic defect at 4q21-q23.  (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