Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Xq24-25
 
        B) 1p32
 
        C) 6p21.3
 
        D) 3p21-3pter
 
        E) Xq22
 

 

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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) Xq24-25

This answer is incorrect.

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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B) 1p32

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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C) 6p21.3

This answer is correct.

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

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D) 3p21-3pter

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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E) Xq22

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)

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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