Evidence map›Paper›PMID 39733135›Full record

ArticleScientific reports2024

Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.

Weijun Chen, Yang Yang, Yu Zhang, Changxuan Sun, Chai Ji, Jiyang Shen, Fangfang Li, Yingping Xiao, Yang Wen, Qian Liu and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Weijun Chen *Department of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Yang Yang *Yunnan Provincial Key Laboratory of Public Health and Biosafety & School of Public Health, Kunming Medical University, Kunming, 650500, People's Republic of China.
Yu ZhangR&D Department, Zhejiang Biosan Biochemical Technologies Co. Ltd, 859 Shixiang West Rd, Hangzhou, 310007, Zhejiang Province, China.
Changxuan SunSuzhou Dushu Lake Hospital, The Fourth Affiliated Hospital of Soochow University, Medical Center of Soochow University, Suzhou, 215123, Jiangshu Province, P. R. China.
Chai JiDepartment of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Jiyang ShenDepartment of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Fangfang LiDepartment of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Yingping XiaoState Key Laboratory for Managing Biotic and Chemical Threats to the Quality and Safety of Agro-Products, Institute of Agro-product Safety and Nutrition, Zhejiang Academy of Agricultural Sciences, Hangzhou, China.
Yang WenState Key Laboratory for Managing Biotic and Chemical Threats to the Quality and Safety of Agro-Products, Institute of Agro-product Safety and Nutrition, Zhejiang Academy of Agricultural Sciences, Hangzhou, China.
Qian LiuMedical Department, Zhejiang Biosan Biochemical Technologies Co. Ltd, 859 Shixiang West Rd, Hangzhou, 310007, Zhejiang Province, China. qliu79@163.com.
Chaochun ZouDepartment of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Children's Regional Medical Center, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China. zcc14@zju.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Williams Syndrome (WS) is a rare neurodevelopmental disorder with a prevalence of 1 in 7500 to 1 in 20,000 individuals, caused by a microdeletion in chromosome 7q11.23. Despite its distinctive clinical features, the underlying metabolic alterations remain largely unexplored. This study employs targeted metabolomics to investigate the metabolic characteristics of children with WS. Using liquid chromatography-tandem mass spectrometry (LC-MS/MS), we identified significant dysregulation of 15 metabolites, with 11 upregulated and 4 downregulated. Notably, amino acids such as alanine, proline, and arginine were significantly elevated. Fatty acid metabolism showed pronounced upregulation of long-chain saturated fatty acids (C18:0, C20:0, C22:0, C24:0, C26:0, and C28:0) and downregulation of long-chain unsaturated fatty acids (C18:2 LA, C22:6 DHA, C16:1 PLA, and t-C18:1 EA), except for upregulated nervonic acid (C24:1) and arachidonic acid (C20:4). Metabolic pathway analysis highlighted disruptions in arginine synthesis, arginine/proline metabolism, alanine, aspartate and glutamate metabolism, biosynthesis of unsaturated fatty acids, linoleic acid metabolism, and arachidonic acid metabolism. This study provides the first comprehensive analysis of amino acid and fatty acid metabolism in children with WS, offering insights into the disorder's complex metabolic landscape. Further validation in larger cohorts is essential to confirm these findings and their potential as biomarkers and therapeutic targets.

Indexed as

Amino AcidsFatty AcidsMetabolomicsTandem Mass SpectrometryWilliams SyndromeAdolescentChildChild, PreschoolChromatography, LiquidFemaleHumansMaleMetabolic Networks and PathwaysMetabolomeAmino AcidsFatty AcidsAmino acidsArachidonic acid (ARA)Docosahexaenoic acid (DHA)Long-chain saturated fatty acids (LC-SFAs)Targeted metabolomicsWilliams Syndrome

Identifiers

PMID39733135
PMCPMC11682280

What Socratic holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.