Su Yajie, Shadike Qiaolibang, Wang Mingbang, Jiang Haili, Liu Wanying, Liu Jingfang, Tuerdi Rena, Zhou Wenhao, Li Long
Department of Neonatology, Children's Hospital of Fudan University, and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Department of Neonatology, Children's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.
Transl Pediatr. 2021 Oct;10(10):2521-2532. doi: 10.21037/tp-21-426.
A low-phenylalanine (Phe) diet affects the metabolism and diversity of gut microbial communities in children with phenylketonuria (PKU). Our study examined gut microbiota characteristics and metabolic pathways, and their correlations with clinical phenotypes in a high-incidence population.
We assessed clinical phenotypes and gut microbiota by 16S ribosomal RNA (rRNA) sequencing, and performed a correlation analysis between phenotype and gut microbiota in a PKU group (n=11) and a healthy group (n=11).
The PKU group had significantly lower microbiota diversity than the healthy group (P=0.014). Phylum-level composition differed significantly between the PKU and healthy groups (: 44.3% 43.1%; : 25.9% 3.3%; : 16.6% 53.2%; and : 10.9% 0.12%, respectively). Further, a significantly decreased level of genus Bacteroidetes (P<0.0001) in the PKU group was negatively correlated with blood Phe level (P=0.014). The microbial function prediction of the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways exhibited a decreased ability of glycan degradation and glutamate metabolism in the PKU group.
Our findings revealed that genus was not only in extremely low abundance in the PKU group, but was also negatively correlated with blood Phe level. The remarkable capability of genus to use complex recalcitrant glycans may be the main reason for the decreased ability of glycan degradation in the PKU group.
低苯丙氨酸（Phe）饮食会影响苯丙酮尿症（PKU）患儿肠道微生物群落的代谢和多样性。我们的研究调查了高发病率人群的肠道微生物群特征和代谢途径，以及它们与临床表型的相关性。
我们通过16S核糖体RNA（rRNA）测序评估临床表型和肠道微生物群，并在苯丙酮尿症组（n = 11）和健康组（n = 11）中进行表型与肠道微生物群之间的相关性分析。
苯丙酮尿症组的微生物群多样性显著低于健康组（P = 0.014）。苯丙酮尿症组和健康组在门水平的组成存在显著差异（分别为：44.3% 对43.1%；：25.9% 对3.3%；：16.6% 对53.2%；以及：10.9% 对0.12%）。此外，苯丙酮尿症组中拟杆菌属水平显著降低（P < 0.0001），且与血苯丙氨酸水平呈负相关（P = 0.014）。京都基因与基因组百科全书（KEGG）途径的微生物功能预测显示，苯丙酮尿症组中聚糖降解和谷氨酸代谢能力下降。
我们的研究结果表明，在苯丙酮尿症组中不仅含量极低，而且与血苯丙氨酸水平呈负相关。利用复杂难降解聚糖的显著能力可能是苯丙酮尿症组聚糖降解能力下降的主要原因。
