Fabry's disease laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Blood tests
- Anemia
- Serum creatinine may be raised from chronic renal failure
- Serum urea may be elevated
- BUN may be raised
- Electrolyte disturbance maybe presented due to renal failure
Urinalysis:
- Hematuria
- Proteinuria
- Mulberry bodies [distal epithelial cell+ globotriaosylceramide accumulation]
Enzymatic analysis
- Drop activity of Alpha-galactosidase A activity [in male (hemizygote) patients, is not reliable in female and heterozygotes]
Elevated of Gb3 concentration in plasma or leukocytes

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