The Adult Phenylketonuria (PKU) Gut Microbiome

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dc.creatorMancilla, Viviana J.
dc.creatorMann, Allison E.
dc.creatorZhang, Yan
dc.creatorAllen, Michael S.
dc.creator.orcid0000-0003-2293-8078 (Allen, Michael S.)
dc.creator.orcid0000-0001-5784-4659 (Zhang, Yan)
dc.date.accessioned2022-08-24T21:30:29Z
dc.date.available2022-08-24T21:30:29Z
dc.date.issued2021-03-04
dc.description.abstractPhenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is 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 performed based on detected bacteria. Gut community diversity was lower in PKU individuals, though this effect was only statistically suggestive. A total of 65 genera across 5 phyla were statistically 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.
dc.description.sponsorshipThis research was funded, in part, by the National Institute on Minority Health and Health Disparities of the National Institutes of Health under Award Number S21MD012472 and by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number R25GM125587. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
dc.identifier.citationMancilla, V. J., Mann, A. E., Zhang, Y., & Allen, M. S. (2021). The Adult Phenylketonuria (PKU) Gut Microbiome. Microorganisms, 9(3), 530. https://doi.org/10.3390/microorganisms9030530
dc.identifier.issn2076-2607
dc.identifier.issue3
dc.identifier.urihttps://hdl.handle.net/20.500.12503/31629
dc.identifier.volume9
dc.publisherMDPI
dc.relation.urihttps://doi.org/10.3390/microorganisms9030530
dc.rights.holder© 2021 by the authors.
dc.rights.licenseAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceMicroorganisms
dc.subject16S rRNA
dc.subjectdiet
dc.subjectdiversity
dc.subjectgastrointestinal microbiota
dc.subjectmetabolism
dc.subjectmicrobiome
dc.subjectphenylketonuria (PKU)
dc.titleThe Adult Phenylketonuria (PKU) Gut Microbiome
dc.typeArticle
dc.type.materialtext

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