Case Report

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Table 1

Alpha-galactosidase levels and gene mutations of all cases.

α-GAL levelGene mutation

Case 1 (F)0.03 (normal range >0.185 nmol/spot/21 h)c.[758T>C]
Case 2 (M)0.06 (normal range >0.185 nmol/spot/21 h)c.[902G>T]
Case 3 (F)0.2 (normal range >0.185 nmol/spot/21 h)c.[902G>T]
Case 4 (F)1.7 (normal range >1.2 µmol/L/h)c.[902G>T]