Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) I-cell disease
 
        B) Sanfilippo disease type A
 
        C) Sly disease
 
        D) Hurler syndrome
 
        E) Hunter syndrome
 

 

	= 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) I-cell disease

This answer is incorrect.

N-acetylglucosamine-1-phosphotransferase is an enzyme which is deficient in Mucolipidosis II (I-cell disease). This deficiency is associated with a genetic defect at 4q21-q23.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

B) Sanfilippo disease type A

This answer is correct.

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) Sly disease

This answer is incorrect.

ß-d-glucoronidase is an enzyme which is deficient in MPS VII (Sly disease). This deficiency is associated with a genetic defect at 7q21.1-22.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

D) Hurler syndrome

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

E) Hunter syndrome

This answer is incorrect.

Iduronate-2-sulphatase is an enzyme which is deficient in MPS II (Hunter syndrome). This deficiency is associated with a genetic defect at Xq27.3-28.  (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