Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS II
 
        B) Niemann-Pick disease type C
 
        C) Late-infantile neuronal ceroid-lipofusinosis
 
        D) Cholesterol ester storage disease
 
        E) MPS IIIB
 

 

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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) MPS II

This answer is incorrect.

Iduronate-2-sulphatase is an enzyme which is deficient in MPS II (Hunter syndrome). This deficiency is associated with a genetic defect at Xq27.3-28.  (See References)

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B) Niemann-Pick disease type C

This answer is incorrect.

NPC1 and HE1 is an enzyme which is deficient in Niemann-Pick disease type C. This deficiency is associated with a genetic defect at 18q11-12 and 14q24.3.  (See References)

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C) Late-infantile neuronal ceroid-lipofusinosis

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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D) Cholesterol ester storage disease

This answer is correct.

Acid lipase is an enzyme which is deficient in Cholesterol ester storage disease (Wolman disease). This deficiency is associated with a genetic defect at 10q23.2-q23.3.  (See References)

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E) MPS IIIB

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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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