Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Sphingomyelinase
 
        B) A-N-acetylgalactosaminidase
 
        C) Lysosomal associated membrane protein-2 (LAMP-2)
 
        D) N-acetylglucosamine-1-phosphotransferase
 
        E) Palmitoyl-protein thioesterase
 

 

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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) Sphingomyelinase

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)

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B) a-N-acetylgalactosaminidase

This answer is incorrect.

A-N-acetylgalactosaminidase is an enzyme which is deficient in Schindler disease. This deficiency is associated with a genetic defect at 22q13.1-13.2.  (See References)

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C) Lysosomal associated membrane protein-2 (LAMP-2)

This answer is correct.

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)

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D) N-acetylglucosamine-1-phosphotransferase

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)

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E) Palmitoyl-protein thioesterase

This answer is incorrect.

Palmitoyl-protein thioesterase is an enzyme which is deficient in Infantile neuronal ceroid-lipofuscinosis. This deficiency is associated with a genetic defect at 1p32.  (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