Abstract
Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common liver disease worldwide, yet treatment remains “one size fits all,” despite phenotypic heterogeneity. We analyzed clinical and metabolomics data from 514 children (ages 5-18, 73% male) with biopsy-proven MASLD across three NASH Clinical Research Network studies. Unsupervised clustering of clinical data identified three distinct metabotypes: early-mild (49.4%, youngest, lowest lipids, liver enzymes, insulin resistance), cardiometabolic (36.8%, highest waist circumference, lipids, uric acid, SBP), and inflammatory-fibrotic (13.8%, highest liver enzymes, steatohepatitis, advanced fibrosis). Integrative network and pathway enrichment analyses revealed alterations in tryptophan metabolism within the inflammatory-fibrotic group, including elevated kynurenine pathway metabolites, which were significantly correlated with fibrosis stage. Branched-chain amino acid degradation, butanoate, and purine metabolism demonstrated greater enrichment in the cardiometabolic group. Here, we show that pediatric MASLD subtypes differ in clinical and metabolic features, providing a framework for targeted interventions, with validation needed in independent cohorts.
Data availability
Clinical and metabolomics data from the NAFLD Pediatric Database 2 (DB2) NASH CRN study are available through the Human Health Exposure Analysis Resource (HHEAR) Data Center (Project ID: 2017-1593) and the Metabolomics Workbench (Study ID: ST001428). Clinical data from the Treatment of NAFLD in Children (TONIC) trial and the NAFLD Pediatric Database (DB1) NASH CRN studies are available through the NIDDK Central Repository. Metabolomics datasets generated from the TONIC and DB1 studies are available under controlled access due to NASH CRN data use agreements and participant privacy protections, and may be requested through the NIDDK Central Repository (https://repository.niddk.nih.gov/pages/for_requestors). All processed data supporting the findings of this study, including metabolite feature tables, statistical outputs, pathway enrichment results, and figure source data, are provided in the accompanying Source Data files. Raw, identifiable clinical data cannot be shared due to NIDDK data use policies and participant privacy regulations. Source data for Table 1 and Supplementary Data 1 are not publicly available to protect participant privacy due to the presence of indirect identifiers, but may be obtained through request to the corresponding author for purposes of interpreting, verifying, and extending the research described in this article, subject to institutional approvals and data use agreements. Requests will be reviewed within 30 days. Source data are provided with this paper.
Code availability
The code used to perform the analyses in this study is publicly available at: (https://github.com/HHuneault/NASH_CRN_pediatric_metabotypes_R). This repository includes scripts for the unsupervised clustering, metabolomics analysis, and associated figures described in the manuscript. DOI: Huneault, H. Code for Clinically Distinct Metabotypes of Pediatric MASLD. Zenodo. https://doi.org/10.5281/zenodo.17807234 (2025).
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Acknowledgements
This work was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under Award Numbers UL1TR002378 (MBV), UL1TR000454 (MBV), and UL1TR000448 (MBV); by NIH grants R01DK125701 (MBV), K23DK080953 (MBV), and NR019083 (MBV); by the US Department of Veterans Affairs Career Development Award 5IK2BX005913-02 (MRS); and by the NIDDK NASH CRN cooperative agreements U01DK061731 (MBV), U01DK061718 (MBV), U01DK061730(MBV), and U24DK061730 (MBV). Additional support was provided through the Human Health Exposure Analysis Resource (HHEAR) program under Award Numbers R01DK131136 (MBV) and R21AI169487 (MBV). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health or the U.S. Department of Veterans Affairs. We gratefully acknowledge the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) for supporting the NASH Clinical Research Network (NASH CRN) and its collaboration with the Human Health Exposure Analysis Resource (HHEAR), developed by the National Institute of Environmental Health Sciences (NIEHS). We thank the NASH CRN investigators and the Ancillary Studies Committee for access to clinical samples and data from the NAFLD Database, NAFLD Pediatric Database 2 (NCT01061684), and the TONIC trial (NCT00063635). Biospecimens reported here were supplied by the NIDDK Central Repository. This manuscript was not prepared in collaboration with the NIDDK Central Repository and does not necessarily reflect its opinions or official views. We also thank Ken Liu, Mary Nellis, James Zhan, Joshua Preston, ViLinh Tran, William Crandall, and Jaclyn Weinberg of the Emory Clinical Biomarkers Laboratory for their technical support. Finally, we extend our deepest appreciation to the NASH CRN study participants and their families for their invaluable contributions.
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H.E.H. performed the statistical and metabolomics analysis, and P.T., S.G., S.B., R.M.C.L., Z.R.J., M.R.S., and C.Y.C. provided guidance. H.E.H. wrote the manuscript, and P.T., Z.R.J., C.Y.C., and M.B.V. provided guidance. P.T., Z.R.J., M.R.S., C.Y.C., A.R.T., C.S.T., S.G., S.B., R.M.C.L., A.K.J., K.P.Y., B.A.N.T., J.B.S., S.A.X., J.P.M., C.Y.B., M.H.F., T.J.H., F.J.P., R.K., D.P.J., J.A.W., and M.B.V. reviewed the final manuscript and provided feedback.
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MBV serves as a consultant to Boehringer Ingelheim, Novo Nordisk, Eli Lilly, Intercept, Takeda, and Alberio. She has stock or stock options in Thiogenesis and Tern Pharmaceuticals. Her institution has received research grants (or in-kind research services) from Target Real World Evidence, Quest, Labcorp, and Sonic Incytes Medical Corp. JPM has research grant funding from Gilead, Abbvie, Albireo, and Mirum. BANT: Advisor or consultant: Abbvie, Akero, Aldeyra, Aligos, Arrowhead, Corcept, Galectin, GSK, Hepion, HistoIndex, Madrigal, Merck, Mirum, Pfizer, Sagimet, Senseion; Stock options: HepGene, HeptaBio; Institutional research grants: Madrigal. SAX: Institutional research grants: Target Real World Evidence. The remaining authors declare no competing interests.
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Huneault, H.E., Tiwari, P., Jarrell, Z.R. et al. Clinically distinct metabotypes of pediatric MASLD identified through unsupervised clustering of NASH CRN data. Nat Commun (2026). https://doi.org/10.1038/s41467-026-69735-z
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DOI: https://doi.org/10.1038/s41467-026-69735-z