Precision gastroenterology in pediatrics: CYP2C19 and individual metabolism of proton pump inhibitors in children with autism spectrum disorder

The aim of this study was to investigate the pharmacogenetic characteristics of proton pump inhibitors (PPIs) metabolism in children with autism spectrum disorder (ASD) based on whole-genome sequencing data and pharmacogenetic testing. A retrospective cross-sectional analysis was conducted involving 31 children with ASD aged 3 to 18 years. CYP2C19 genotyping was performed, assessing allele distribution and metabolic phenotypes using international databases such as CPIC and PharmGKB. The results revealed a high frequency of the CYP2C19*17 allele, associated with rapid PPI metabolism, in 32% of participants, notably higher (42%) in the subgroup with genetic syndromes. The CYP2C19*2 allele, linked to slow metabolism, was not detected. The CYP2C19*17 allele showed an even gender distribution. These findings indicate significant genetic heterogeneity in PPI metabolism among children with ASD, impacting the clinical efficacy of therapy. The data emphasize the necessity of pharmacogenetic testing to personalize PPI dosing and improve treatment outcomes for gastrointestinal disorders in this patient population. The absence of the CYP2C19*2 allele warrants further investigation. Integrating genetic information into clinical protocols supports the advancement of precision medicine and enhances the quality of life for children with ASD.

precision medicine, pharmacogenetics, ASD, CYP2C19, proton pump inhibitors

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