Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Sanfilippo disease type B
 
        B) Hunter syndrome
 
        C) Morquio syndrome type A
 
        D) Sialuria
 
        E) Morquio syndrome type B
 

 

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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) Sanfilippo disease type B

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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B) Hunter syndrome

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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C) Morquio syndrome type A

This answer is incorrect.

Galactosamine-6-sulphatase is an enzyme which is deficient in MPS IVA (Morquio syndrome type A). This deficiency is associated with a genetic defect at 16q24.3.  (See References)

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D) Sialuria

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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E) Morquio syndrome type B

This answer is correct.

ß-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