Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Pycnodysostosis
 
        B) Sialidosis
 
        C) Niemann-Pick disease type C
 
        D) A-Fucosidosis
 
        E) Infantile free sialic acid storage disase
 

 

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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) 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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B) Sialidosis

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) 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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D) a-Fucosidosis

This answer is incorrect.

A-Fucosidase is an enzyme which is deficient in a-Fucosidosis. This deficiency is associated with a genetic defect at 1p34.1-36.1.  (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