Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Pepstatin-insenstivie lysosomal peptidase
 
        B) A-Neuraminidase
 
        C) Arylsulphatase A (galactose-3-sulphatase)
 
        D) Aspartylglucosamindase
 
        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) Pepstatin-insenstivie lysosomal peptidase

This answer is incorrect.

Pepstatin-insenstivie lysosomal peptidase is an enzyme which is deficient in Late-infantile neuronal ceroid-lipofusinosis. This deficiency is associated with a genetic defect at 11p15.  (See References)

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B) a-Neuraminidase

This answer is incorrect.

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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C) Arylsulphatase A (galactose-3-sulphatase)

This answer is incorrect.

Arylsulphatase A (galactose-3-sulphatase) is an enzyme which is deficient in Metachromatic leukodystrophy. This deficiency is associated with a genetic defect at 22q13.31-qter.  (See References)

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D) Aspartylglucosamindase

This answer is correct.

Aspartylglucosamindase is an enzyme which is deficient in Aspartylglucosaminuria. This deficiency is associated with a genetic defect at 4q34-35.  (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