Fabry's disease laboratory findings: Difference between revisions

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==Overview==
==Overview==
An reduced concentration of serum [[Alpha-galactosidase A deficiency|Alpha-galactosidase A]] activity or its activity is diagnostic of Fabry's disease.  
An reduced concentration of serum [[Alpha-galactosidase A deficiency|Alpha-galactosidase A]] level or its activity is diagnostic of Fabry's disease. Other laboratory findings can be vary due to the organ involvement. 


==Laboratory Findings==
==Laboratory Findings==

Revision as of 12:21, 23 May 2022


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

An reduced concentration of serum Alpha-galactosidase A level or its activity is diagnostic of Fabry's disease. Other laboratory findings can be vary due to the organ involvement.

Laboratory Findings

Genetic Testing

  • Detection of GLA gene mutation [ After recognition of dropped Alpha-galactosidase A activity in male patients, First place after suspected in females]

References