Altered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease
These results indicate that T1D hematological alterations at onset might act as biomarkers linked to circulating levels of short-chain acyl-carnitines, providing risk stratification for T1D and potentially for MSUD. Carnitine metabolism may be a promising therapeutic target for both diseases.
Authors
- Abby Grier (ORCID: https://orcid.org/0000-0002-5199-8670)
- Eric J. Earley (ORCID: https://orcid.org/0000-0001-6576-1319)
- Julie A. Reisz (ORCID: https://orcid.org/0000-0002-7296-4963)
- Shaun Bevers (ORCID: https://orcid.org/0000-0002-2000-6106)
- Alicia Key (ORCID: https://orcid.org/0000-0002-8787-8144)
- Domenico Roberti (ORCID: https://orcid.org/0000-0003-0948-3910)
- Grier P. Page (ORCID: https://orcid.org/0000-0003-2582-3786)
- Travis G. Nemkov (ORCID: https://orcid.org/0000-0001-8566-7119)
- Angelo D’Alessandro (ORCID: https://orcid.org/0000-0002-2258-6490)
- Pierluigi Marzuillo (ORCID: https://orcid.org/0000-0003-4682-0170)
- Philip J. Norris (ORCID: https://orcid.org/0000-0003-0526-2088)
- Marcella Contieri (ORCID: https://orcid.org/0000-0002-8503-8475)
- Angela Zanfardino (ORCID: https://orcid.org/0000-0003-0641-1321)
- Michael Paul Busch (ORCID: https://orcid.org/0000-0002-1446-125X)
- Holmes Morton
- Monika Dzieciątkowska (ORCID: https://orcid.org/0000-0002-9947-2520)
- Fara Vallefuoco
- Vienna Kauffman
Institutions
- Clinic for Special Children (US)
- RTI International (US)
- University of Campania "Luigi Vanvitelli" (IT)
- Pacific Research Institute (US)
- University of Campania "Luigi Vanvitelli" (IT)
- Vitalant (US)
- University of Colorado Anschutz Medical Campus (US)
Publication Details
- Journal
- Communications Medicine
- Published
- 2025-07-26
- DOI
- https://doi.org/10.1038/s43856-025-01028-w
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32
Funders
- National Institutes of Health
- National Heart, Lung, and Blood Institute