The Adult Phenylketonuria (PKU) Gut Microbiome. PKU Microbiome

Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet frequently supplemented with an amino acid formula to maintain proper nutrition. Little is known of the effects of these dietary interventions on the gut microbiome of PKU patients, particularly in adults.In this study, we sequenced the V4 region of the 16S rRNA gene from stool samples collected from adults with PKU (n = 11) and non-PKU controls (n = 21). Gut bacterial communities were characterized through measurements of diversity and taxa abundance. Additionally, metabolic imputation was preformed based on detected bacteria.Although gut community diversity was lower in PKU individuals, the effect was not significant. However, 65 genera across five phyla were differentially abundant between PKU and control samples (p<0.001). Additionally, we identified six metabolic pathways that differed between groups (p<0.05), with four enriched in PKU samples and two in controls.While the child PKU gut microbiome has been previously investigated, this is the first study to explore the gut microbiome of adult PKU patients. We find that microbial diversity in PKU children differs from PKU adults and highlights the need for further studies to understand the effects of dietary restrictions.