Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) Arylsulphatase A (galactose-3-sulphatase)
 
        B) NPC1 and HE1
 
        C) Cystinosin
 
        D) N-acetylglucosamine-6-sulfatase
 
        E) A-N-acetylglucosamindase
 

 

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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) Arylsulphatase A (galactose-3-sulphatase)

This answer is correct.

Arylsulphatase A (galactose-3-sulphatase) is an enzyme which is deficient in Metachromatic leukodystrophy. This deficiency is associated with a genetic defect at 22q13.31-qter.  (See References)

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B) NPC1 and HE1

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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C) Cystinosin

This answer is incorrect.

Cystinosin is an enzyme which is deficient in Cystinosis. This deficiency is associated with a genetic defect at 17p12.  (See References)

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D) N-acetylglucosamine-6-sulfatase

This answer is incorrect.

N-acetylglucosamine-6-sulfatase is an enzyme which is deficient in MPS IIID (Sanfilippo disease type D). This deficiency is associated with a genetic defect at 12q14.  (See References)

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E) a-N-acetylglucosamindase

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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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