Valproic acid levels in neurodevelopmental disorders: correlation with CYP and SULT genes using LC-MS/MS

This study highlights the complexity of valproic acid (VPA) therapy in individuals with neurodevelopmental disorders and the limited influence of common genetic polymorphisms in CYP and SULT genes on VPA plasma levels. While therapeutic drug monitoring (TDM) remains an invaluable tool for optimizing VPA therapy, the lack of significant correlations between genetic variants and VPA concentrations suggests that routine pharmacogenetic testing for these specific variants may not be warranted in clinical practice. However, the observed toxic and sub-therapeutic VPA levels emphasize the importance of regular TDM to mitigate risks associated with overdose or insufficient dosing.