Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) ß-d-galactosidase
 
        B) Acid ceramidase
 
        C) Palmitoyl-protein thioesterase
 
        D) Cystinosin
 
        E) A-Mannosidase
 

 

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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-d-galactosidase

This answer is incorrect.

ß-d-galactosidase is an enzyme which is deficient in MPS IVB (Morquio syndrome type B). This deficiency is associated with a genetic defect at 3p21.33.  (See References)

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B) 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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C) Palmitoyl-protein thioesterase

This answer is correct.

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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D) Cystinosin

This answer is incorrect.

Cystinosin is an enzyme which is deficient in Cystinosis. This deficiency is associated with a genetic defect at 17p12.  (See References)

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E) a-Mannosidase

This answer is incorrect.

A-Mannosidase is an enzyme which is deficient in a-Mannosidosis. This deficiency is associated with a genetic defect at 19p13.2-q12.  (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