Fig. 4

The novel homozygous variant (p.S242 N) in ALDH18A1 decreased enzyme activity of P5CS. a Hela cells were respectively transfected with WT and mutant plasmids (S242 N, V243 L). Mitochondria was visualized with MitoTracker red probe and no dramatic change in mitochondrial localization was found. (b, c) HEK293 cells were respectively transfected with WT and mutant plasmids (S242 N, V243 L). No significant difference of protein level was detected between WT P5CS and mutant P5CS. d The serum P5CS activity of case 4 decreased as compared with that of four gender matched healthy controls. Scale bar = 20 μm. Error bars represent SEM, *p < 0.05