Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS VII
 
        B) Infantile neuronal ceroid-lipofuscinosis
 
        C) Danon disease
 
        D) A-Mannosidosis
 
        E) Glycogen storage disease IIA
 

 

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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 VII

This answer is incorrect.

ß-d-glucoronidase is an enzyme which is deficient in MPS VII (Sly disease). This deficiency is associated with a genetic defect at 7q21.1-22.  (See References)

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B) Infantile neuronal ceroid-lipofuscinosis

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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C) Danon disease

This answer is correct.

Lysosomal associated membrane protein-2 (LAMP-2) is an enzyme which is deficient in Danon disease. This deficiency is associated with a genetic defect at Xq24-25.  (See References)

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D) a-Mannosidosis

This answer is incorrect.

A-Mannosidase is an enzyme which is deficient in a-Mannosidosis. This deficiency is associated with a genetic defect at 19p13.2-q12.  (See References)

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E) Glycogen storage disease IIA

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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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