Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences, Lublin, Poland.
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.
Phenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia predominated in PKU, while Bacteroidia dominated in control. Oral Bacteroidetes. Firmicutes, Proteobacteria, and Fusobacteria phyla were similar in both men. The microbiome may differ from those fed a Phe-free diet from birth due to late diagnosis and treatment of PKU. Due to the age of the 63-year-old patient's and late therapy, the results differ from earlier studies. No study has compared an older PKU patient's gut and oral microbiomes.
苯丙酮尿症（PKU）是一种代谢和遗传疾病，由苯丙氨酸羟化酶（PAH）基因缺乏引起，导致器官中苯丙氨酸水平升高。饮食疗法包括消除饮食和无苯丙氨酸的项目，这可能会改变微生物群。本研究检测了一名 63 岁 PKU 患者和一名居住在农村地区的对照男性的口腔和肠道微生物组。iSeq100（Illumina）对粪便和口腔 16S rRNA 基因 V3-V4 区进行了测序。PKU 肠道中的厚壁菌门较多，拟杆菌门较少。PKU 以梭菌为主，而对照组以拟杆菌为主。口腔拟杆菌门、厚壁菌门、变形菌门和梭杆菌门在两人中相似。由于 PKU 的诊断和治疗较晚，微生物组可能与从出生就接受无苯丙氨酸饮食的人群不同。由于这位 63 岁患者的年龄和晚期治疗，结果与早期研究不同。尚无研究比较老年 PKU 患者的肠道和口腔微生物组。
