Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS IVB
 
        B) Schindler disease
 
        C) Cholesterol ester storage disease
 
        D) GM1-gangliosidosis
 
        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 IVB

This answer is incorrect.

ß-d-galactosidase is an enzyme which is deficient in MPS IVB (Morquio syndrome type B). This deficiency is associated with a genetic defect at 3p21.33.  (See References)

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B) Schindler disease

This answer is correct.

A-N-acetylgalactosaminidase is an enzyme which is deficient in Schindler disease. This deficiency is associated with a genetic defect at 22q13.1-13.2.  (See References)

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C) Cholesterol ester storage disease

This answer is incorrect.

Acid lipase is an enzyme which is deficient in Cholesterol ester storage disease (Wolman disease). This deficiency is associated with a genetic defect at 10q23.2-q23.3.  (See References)

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D) GM1-gangliosidosis

This answer is incorrect.

ß-Galactosidase is an enzyme which is deficient in GM1-gangliosidosis. This deficiency is associated with a genetic defect at 3p21-3pter.  (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