Lysosomal Storage Diseases 02

Topic: Adult

Created on Thursday, November 20 2008 by jdmiles

Last modified on Thursday, November 20 2008.

 
        A) Fabry disease
 
        B) Farber disease
 
        C) Niemann-Pick disease type A
 
        D) Gaucher disease
 
        E) Tay-Sachs disease
 

 

	= 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 November 20, 2008 by jdmiles.
This question was last modified on November 20, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

---

A) Fabry disease

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

B) Farber disease

This answer is correct.

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

C) Niemann-Pick disease type A

This answer is incorrect.

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

D) Gaucher disease

This answer is incorrect.

ß-Glucosidase is an enzyme which is deficient in Gaucher disease. This deficiency is associated with a genetic defect at 1q21.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

E) Tay-Sachs disease

This answer is incorrect.

A-Subunit ß-hexosaminidase is an enzyme which is deficient in Tay-Sachs disease. This deficiency is associated with a genetic defect at 15q23-24.  (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 02
Question ID: 11200801
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/20/2008
Modified: 11/20/2008
Estimated Permutations: 0