Lyso-Gb3 values for female and male Fabry patients compared to control.

<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 times higher than in females. Each data point represents one patient. Indicated in pink are patients with the mutation <i>p.S126G</i> (8f/4m), in blue <i>p.A143T</i> (10f/8m) and in green <i>p.D313Y</i> (33f/24m) to illustrate that most found non-pathogenic mutations belong to either one or the other patient cohort. Other exceptions are: <i>p.R118C</i>, <i>p.V316I</i>, <i>p.E418G</i> (one male patient each) and <i>p.A20P</i>, <i>p.D83N</i>, <i>p.I91T</i>, <i>p.S102L</i>, <i>p.R112C</i>, <i>p.R118C</i>, <i>p.D175E</i>, <i>p.G325S</i>, <i>p.A368T</i>, <i>p.T385A</i>, <i>p.W399*</i>, c.1208delT, <i>p.L415F</i>, (one female patient each) and <i>p.R252T</i> (4×), <i>p.N215S</i> (3×). About 180 healthy probands were tested with no Fabry gene variation and had values of 0.9 ng/ml (95^th percentile calculation).