Intestinal microbiota composition of children with glycogen storage Type I patients

Abstract

Aim: Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake of complex carbohydrates (supplied by uncooked cornstarch), restriction of sugars, and a lower amount of lipids. There is limited information about the dietary regimen in patients with GSD, which might affect the intestinal luminal pH and microbiota composition. The aim of this study to investigate the intestinal microbiota composition in patients with GSD receiving diet treatment.

Method: Twelve patients who were followed up with GSD I after the diagnosis receiving diet therapy and 11 healthy children have been enrolled. Intestinal microbiota composition was evaluated by 16 s rRNA gene sequencing.

Results: A significant difference was found for beta-diversity between the GSD group and controls. A significantly lower abundance of Firmicutes and higher abundance of Actinobacteria was found in GSD group compared to the controls. Akkermansia, Pseudoalteromonas, Uruburella, and Castellaniella were dominant in the GSD patients at the genus level, while Faecalibacterium, Bacterioides, Gemmiger, Parabacteroides in the control group. At species level, Faecalibacterium prausnitzii decreased, and Akkermansia muciniphila were dominant in children with GSD.

Discussion: There is a substantial change in the composition of the gut microbiota, reduction of F. prausnitzii and an increase of A. muciniphila in children with GSD receiving consumption of uncooked cornstarch. Alterations of the intestinal microbiota might be related with the disease itself or dietary restrictions in patients with GSD, however, in certain condition, dysbiosis can negatively affect the course and make it difficult to control the disease.

Fig. 1. Intestinal microbiota composition of the study groups at genus levels.

Bacterial community relative abundance analysis at the genus (relative abundance >1%; bacteria with relative abundances <1% were pooled in the ‘others’ category and sorted by total concentration).

Fig. 2. LEfSe analysis grafics showing bacterial taxa that were significantly different in abundance between GSD group and healthy controls.

LefSe analysis was performed to identify differentially abundant taxa for which the LDA scores are shown. Only species and functional modules with LDA effect size >2 and FDR-corrected p value < 0.05 were plotted. Horizontal bars represent log.10 converted LDA score indicated by vertical dotted lines. Different colors represent different groups. p—phylum, c-class, o—order, f—family, g—genus, s—species. Red: High CH (GSD group receiving diet). Green: Normal, Healthy children.