Gut Microbiome of Phenylketonuria Patients




Zhang, Yan
Durrer, Katherine
Allen, Michael


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Background: Phenylketonuria (PKU) is a metabolic disease caused by a mutation in the phenylalanine hydroxylase (PAH) gene, resulting in the inability to metabolize phenylalanine. Currently, the main treatment for PKU is dietary Phe restriction. Numerous studies on the gut microbiome have demonstrated impacts on overall health, and both diet and genetics have been shown to impact the composition of the gut microbiome. The gut microbiome in adult PKU patients has not yet been systematically investigated, and the ramifications of dietary Phe restriction are unknown. Objective: Characterize the gut microbiome of PKU patients. Materials and Methods: Gut microbial composition of 16 adult PKU patients were compared to 15 healthy adults by sequencing the 16S RNA gene v4 region using the Illumina MiSeq instrument. Results: The dominant genera found in the gut microbiome of PKU and healthy control were Blautia and Bacteroides. When comparing the microbiome composition of healthy individuals and PKU patients, the abundance of Blautia, Corpococcus, Subdoligranulum, and Psuedonomas were increased in PKU patients, while Bacteriodes, Alistipes, SMB53, Faecalibacterium, and members of the Enterobacteriaceae family were shown to decrease in abundance in PKU patients. Conclusions: The compositions of the PKU gut microbiome showed differences compared to that of healthy controls. This study provides valuable background information on the gut microbiome of PKU patients, which could be beneficial to the development of future treatments.