FrontalCortex, Inc. is a non-profit corporation dedicated to neurology education.

Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

GM2 activator maps to which of the following genetic loci?

 
        A) 22q13.1-13.2
 
        B) 17q21.1
 
        C) 4p16.3
 
        D) Xq22
 
        E) 5q32-33
 

 


Back to the question = Go back to the top of the page.
See another question like this one = Reload a different version of this question ().
Click here for a random question = Load a random question from the database.
Clone this question = Use this question as a template to create a totally NEW question.
Rate this question = Enter detailed rating for this question!
Average user rating for this question = 4 = How users like you have rated this question.
This question was created on February 16, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) 22q13.1-13.2

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)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




B) 17q21.1

This answer is incorrect.


A-N-acetylglucosamindase is an enzyme which is deficient in MPS IIIB (Sanfilippo disease type B). This deficiency is associated with a genetic defect at 17q21.1.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




C) 4p16.3

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)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




D) Xq22

This answer is incorrect.


A-Galactosidase A is an enzyme which is deficient in Fabry disease. This deficiency is associated with a genetic defect at Xq22.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




E) 5q32-33

This answer is correct.


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)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

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.
Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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

User Comments About This Question:

0 user entries
Please log in if you'd like to add a comment.