Fabry Disease 01

Topic: Adult

Created on Tuesday, September 30 2008 by jdmiles

Last modified on Tuesday, September 30 2008.

 
        A) Characteristic manifestations are atherosclerosis at an early age, adrenal insufficiency, and sensorimotor neuropathy
 
        B) It is related to a defect on chromosome 17
 
        C) Characteristic manifestations are painful sensory neuropathy, intracranial hemorrhage, and adrenal insufficiency
 
        D) It is not an inherited disorder
 
        E) It is associated with a defect in the alpha-galactoidase gene
 

 

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This question was created on September 30, 2008 by jdmiles.
This question was last modified on September 30, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Characteristic manifestations are atherosclerosis at an early age, adrenal insufficiency, and sensorimotor neuropathy

This answer is incorrect.

The characteristic manifestations of Fabry disease are reddish-purple skin lesions, painful sensory neuropathy, and atherosclerosis at an early age.  (See References)

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B) it is related to a defect on chromosome 17

This answer is incorrect.

Fabry disease is an X-linked inherited disorder.  (See References)

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C) Characteristic manifestations are painful sensory neuropathy, intracranial hemorrhage, and adrenal insufficiency

This answer is incorrect.

The characteristic manifestations of Fabry disease are painful sensory neuropathy, reddish-purple skin lesions, and atherosclerosis at an early age.  (See References)

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D) it is not an inherited disorder

This answer is incorrect.

Fabry disease is an X-linked inherited disorder.  (See References)

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E) it is associated with a defect in the alpha-galactoidase gene

This answer is correct.

Fabry disease is associated with a defect in the alpha-galactosidase gene.  (See References)

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References:

1. Daniel Dumitru, Anthony A. Mato, Machiel J. Zwarts, Daniel, Md. Dumitru, Anthony A. Amato, . Electrodiagnostic Medicine (Books). Hanley & Belfus (ISBN:1560534338)

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adult
Fabry Disease 01
Question ID: 093008134
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/30/2008
Modified: 09/30/2008
Estimated Permutations: 514800