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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 Acetyl CoA:a-glucosaminide-N-acetyltransferase in which of the following disorders?

 
        A) Sandhoff disease
 
        B) -Mannosidosis
 
        C) Infantile free sialic acid storage disase
 
        D) MPS IIIC
 
        E) MPS IVB
 

 


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This question was created on February 16, 2007 by jdmiles.
This question was last modified on .

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Sandhoff disease

This answer is incorrect.


-Subunit -hexosaminidase is an enzyme which is deficient in Sandhoff disease. This deficiency is associated with a genetic defect at 5q13.  (See References)

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B) -Mannosidosis

This answer is incorrect.


-Mannosidase is an enzyme which is deficient in -Mannosidosis. This deficiency is associated with a genetic defect at 4q22-25.  (See References)

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C) Infantile free sialic acid storage disase

This answer is incorrect.


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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D) MPS IIIC

This answer is correct.


Acetyl CoA:a-glucosaminide-N-acetyltransferase is an enzyme which is deficient in MPS IIIC (Sanfilippo disease type C)  (See References)

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E) MPS IVB

This answer is incorrect.


-d-galactosidase is an enzyme which is deficient in MPS IVB (Morquio syndrome type B). This deficiency is associated with a genetic defect at 3p21.33.  (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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