Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) A-N-acetylglucosamindase
 
        B) Galactosamine-6-sulphatase
 
        C) Pepstatin-insenstivie lysosomal peptidase
 
        D) Cystinosin
 
        E) A-Subunit ß-hexosaminidase
 

 

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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) a-N-acetylglucosamindase

This answer is incorrect.

A-N-acetylglucosamindase is an enzyme which is deficient in MPS IIIB (Sanfilippo disease type B). This deficiency is associated with a genetic defect at 17q21.1.  (See References)

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B) Galactosamine-6-sulphatase

This answer is incorrect.

Galactosamine-6-sulphatase is an enzyme which is deficient in MPS IVA (Morquio syndrome type A). This deficiency is associated with a genetic defect at 16q24.3.  (See References)

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C) Pepstatin-insenstivie lysosomal peptidase

This answer is correct.

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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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-Subunit ß-hexosaminidase

This answer is incorrect.

A-Subunit ß-hexosaminidase is an enzyme which is deficient in Tay-Sachs disease. This deficiency is associated with a genetic defect at 15q23-24.  (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