Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) ß-Subunit ß-hexosaminidase
 
        B) NPC1 and HE1
 
        C) Acid ceramidase
 
        D) Sphingomyelinase
 
        E) ß-Galactosidase
 

 

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This question was created on February 16, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) ß-Subunit ß-hexosaminidase

This answer is incorrect.

ß-Subunit ß-hexosaminidase is an enzyme which is deficient in Sandhoff disease. This deficiency is associated with a genetic defect at 5q13.  (See References)

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B) NPC1 and HE1

This answer is incorrect.

NPC1 and HE1 is an enzyme which is deficient in Niemann-Pick disease type C. This deficiency is associated with a genetic defect at 18q11-12 and 14q24.3.  (See References)

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C) Acid ceramidase

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)

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D) Sphingomyelinase

This answer is correct.

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)

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E) ß-Galactosidase

This answer is incorrect.

ß-Galactosidase is an enzyme which is deficient in GM1-gangliosidosis. This deficiency is associated with a genetic defect at 3p21-3pter.  (See References)

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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.

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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