Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) AB variant GM2-gangliosidosis
 
        B) MPS I
 
        C) MPS IV
 
        D) Niemann-Pick disease type A
 
        E) Schindler 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) AB variant GM2-gangliosidosis

This answer is incorrect.

GM2 activator is an enzyme which is deficient in AB variant GM2-gangliosidosis. This deficiency is associated with a genetic defect at 5q32-33.  (See References)

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B) MPS I

This answer is incorrect.

A-L-iduronidase is an enzyme which is deficient in MPS I (Hurler syndrome). This deficiency is associated with a genetic defect at 4p16.3.  (See References)

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C) 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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D) Niemann-Pick disease type A

This answer is correct.

Sphingomyelinase is an enzyme which is deficient in Niemann-Pick disease type A. This deficiency is associated with a genetic defect at 11p15.1-15.4.  (See References)

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E) Schindler disease

This answer is incorrect.

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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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