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Definitive diagnosis is established by:

Males1:

  • α-galactosidase A enzyme assay is diagnostic—measures enzyme level in plasma and leukocytes1
  • Affected males have reduced α-galactosidase A activity in plasma and leukocytes1 compared to normal reference ranges

Females1,2:

  • Enzyme assay alone is frequently insufficient for diagnosis in females2
  • DNA-based diagnosis is required/gold-standard for females with normal to low-normal enzyme activity levels and is advisable in all suspected patients2

  • The addition of biomarker lyso-GL3 may increase the sensitivity of diagnostic testing in females

 




References: 1. Ortiz A, et al. Mol Genet Metab. 2018;123:416-427. 2. Smid BE, et al. J Med Genet. 2015;52:262–268.

Last Updated: Dec 21, 2019
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