The FrontalCortex question bank can help you study for the Psychiatry Resident-In-Training Examination (PRITE exam).

Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

Which of the following disorders is associated with a genetic defect at 5q32-33?

 
        A) Danon disease
 
        B) Farber disease
 
        C) Cystinosis
 
        D) AB variant GM2-gangliosidosis
 
        E) A-Fucosidosis
 

 


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) Danon disease

This answer is incorrect.


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)

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) Farber disease

This answer is incorrect.


Acid ceramidase is an enzyme which is deficient in Farber disease. This deficiency is associated with a genetic defect at 8p22-21.2.  (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.

 

 

 

 

 

 

 

 

 




C) Cystinosis

This answer is incorrect.


Cystinosin is an enzyme which is deficient in Cystinosis. This deficiency is associated with a genetic defect at 17p12.  (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) AB variant GM2-gangliosidosis

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.

 

 

 

 

 

 

 

 

 




E) a-Fucosidosis

This answer is incorrect.


A-Fucosidase is an enzyme which is deficient in a-Fucosidosis. This deficiency is associated with a genetic defect at 1p34.1-36.1.  (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.

 

 

 

 

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.