LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease

► This LC-MS/MS technique allows quantification of lyso-Gb3 in plasma. ► The chemical structure of lyso-Gb3 was confirmed by tandem mass spectrometry fragmentation. ► The validation of the plasma lyso-Gb3 method provided good accuracy and precision. ► Plasma lyso-Gb3 levels were markedly decreased following the beginning of ERT. ► The plasma lyso-Gb3 methodology developed is robust and user-friendly.