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Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

There is a deficiency in the expression or activity of Sialin in which of the following disorders?

 
        A) Mucolipidosis II
 
        B) Pycnodysostosis
 
        C) GM1-gangliosidosis
 
        D) Aspartylglucosaminuria
 
        E) Infantile free sialic acid storage disase
 

 


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This question was created on February 16, 2007 by jdmiles.
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ANSWERS AND EXPLANATIONS




A) Mucolipidosis II

This answer is incorrect.


N-acetylglucosamine-1-phosphotransferase is an enzyme which is deficient in Mucolipidosis II (I-cell disease). This deficiency is associated with a genetic defect at 4q21-q23.  (See References)

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B) Pycnodysostosis

This answer is incorrect.


Cathepsin K is an enzyme which is deficient in Pycnodysostosis. This deficiency is associated with a genetic defect at 1q21.  (See References)

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C) GM1-gangliosidosis

This answer is incorrect.


-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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D) Aspartylglucosaminuria

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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E) Infantile free sialic acid storage disase

This answer is correct.


Sialin is an enzyme which is deficient in Infantile free sialic acid storage disase (Sialuria). This deficiency is associated with a genetic defect at 6q14-15.  (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

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