Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) 4p16.3
 
        B) 17q25.3
 
        C) 5q13-14
 
        D) 17p12
 
        E) 6p21.3
 

 

	= Go back to the top of the page.
	= Reload a different version of this question ().
	= Load a random question from the database.
	= Use this question as a template to create a totally NEW question.
	= Enter detailed rating for this question!
	= 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) 4p16.3

This answer is correct.

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

B) 17q25.3

This answer is incorrect.

Sulfamidase is an enzyme which is deficient in MPS IIIA (Sanfilippo disease type A). This deficiency is associated with a genetic defect at 17q25.3.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

C) 5q13-14

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

D) 17p12

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

E) 6p21.3

This answer is incorrect.

A-Neuraminidase is an enzyme which is deficient in Sialidosis. This deficiency is associated with a genetic defect at 6p21.3.  (See References)

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.

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