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Lysosomal Storage Diseases 01

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on .

In Cholesterol ester storage disease, there is a deficiency in which of the following enzymes?

 
        A) Palmitoyl-protein thioesterase
 
        B) Aspartylglucosamindase
 
        C) N-acetylgalactosamine-4-sulfatase
 
        D) A-Neuraminidase
 
        E) Acid lipase
 

 


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This question was created on February 17, 2007 by jdmiles.
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ANSWERS AND EXPLANATIONS




A) Palmitoyl-protein thioesterase

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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B) Aspartylglucosamindase

This answer is incorrect.


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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C) N-acetylgalactosamine-4-sulfatase

This answer is incorrect.


N-acetylgalactosamine-4-sulfatase is an enzyme which is deficient in MPS IV (Maroteaux-Lamy disease). This deficiency is associated with a genetic defect at 5q13-14.  (See References)

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D) 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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E) Acid lipase

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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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: 02/17/2007
Modified:
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