Fig. 5.
A: The levels of SPB 18:0;O2 is shown with the DEGS1 variants p.G270E, p.R311K and p.A280V, respectively. Ctrl: SPB 18:0;O2 from plasma of 19 unrelated controls. B: The levels of 18:1(4E);O2 detected in plasma of the DEGS1 variants p.G270A, p.R311K and p.A280V, and of 19 unrelated controls. C: The ratio of SPB 18:0;O2/18:1(4E);O2 in plasma of the DEGS1 variants p.G270A, p.R311K and p.A280V, and of 19 unrelated controls. D: The levels of SPB 18:1(14Z);O2 detected in plasma of the DEGS1 variants p.G270A, p.R311K and p.A280V, and of 19 unrelated controls. SPBs shown are the reaction products from the hydrolysis of complex sphingolipids. Data are shown as mean ± SD (error bars), n = 3 for the DEGS1 variants p.G270E and p.R311K, Average values of 19 unrelated control samples generated from three or four technical replicates each and n = 9 for the DEGS1 variant p.A280V from 3 biological replicates, Mann-Whitney testing; ∗∗∗P < 0.001; ∗∗P = 0.001, ∗P < 0.05; ns, not significant.