Metabolomic profiles in serum uncover novel biomarkers in children with Williams-Beuren syndrome.

ABSTRACT: Williams-Beuren syndrome (WBS, OMIM-no.194050) is a rare congenital genetic disorder primarily marked by developmental delays and cardiovascular anomalies, with potential involvement of metabolic dysregulation. Despite this, the metabolic features of WBS have not been extensively studied. Thus, our objective was to examine the serum metabolome profile in children with WBS, elucidating metabolic changes and associated pathways in the disorder. We recruited 25 children with WBS (mean age 5.0 ± 2.6 years, 40% female) from the Children's Hospital affiliated to Zhejiang University between 2020 and 2023. An age and sex matched healthy control group (N = 25) were recruited from the Health Management Center in the same hospital. Clinical information of WBS were extracted from the medical records.

SUBMITTER: Bai G 

PROVIDER: S-EPMC11923248 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature