Lysosomal Storage Diseases 01

Topic: Adult

Created on Friday, February 16 2007 by jdmiles

Last modified on .

 
        A) MPS IX
 
        B) Infantile neuronal ceroid-lipofuscinosis
 
        C) Metachromatic leukodystrophy
 
        D) Infantile free sialic acid storage disase
 
        E) Fabry disease
 

 

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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) MPS IX

This answer is incorrect.

Hyaluronidase is an enzyme which is deficient in MPS IX. This deficiency is associated with a genetic defect at 3p21.3.  (See References)

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B) Infantile neuronal ceroid-lipofuscinosis

This answer is incorrect.

Palmitoyl-protein thioesterase is an enzyme which is deficient in Infantile neuronal ceroid-lipofuscinosis. This deficiency is associated with a genetic defect at 1p32.  (See References)

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C) Metachromatic leukodystrophy

This answer is incorrect.

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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D) 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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E) Fabry disease

This answer is correct.

A-Galactosidase A is an enzyme which is deficient in Fabry disease. This deficiency is associated with a genetic defect at Xq22.  (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