A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia
We report a novel variant in ACAA2 that causes hepatitis and hypoglycemia during infancy and lipodystrophy during adulthood accompanied by elevated plasma long chain acylcarnitines.
Authors
- Ralph J. DeBerardinis (ORCID: https://orcid.org/0000-0002-2705-7432)
- Diana R. Tomchick (ORCID: https://orcid.org/0000-0002-7529-4643)
- Vinaya Simha (ORCID: https://orcid.org/0000-0002-9858-2832)
- Mary Kate LoPiccolo
- Rebecca J. Brown (ORCID: https://orcid.org/0000-0002-2589-7382)
- Anil Agarwal (ORCID: https://orcid.org/0000-0003-3608-2848)
- Deanna Alexis Carere (ORCID: https://orcid.org/0000-0003-3965-686X)
- Thomas P. Mathews (ORCID: https://orcid.org/0000-0002-9355-8243)
- Matthew T. Snyder
- Purva Gopal (ORCID: https://orcid.org/0000-0001-7125-695X)
- Abhimanyu Garg (ORCID: https://orcid.org/0000-0001-7209-6986)
- Chao Xing (ORCID: https://orcid.org/0000-0002-1838-0502)
- Stephen C. Ward (ORCID: https://orcid.org/0000-0002-2008-5334)
- Colleen Donnelly (ORCID: https://orcid.org/0000-0002-6911-9427)
- Anna Platt (ORCID: https://orcid.org/0009-0003-0729-7900)
- Xandria Johnson
Institutions
- GenVec (US)
- National Institutes of Health (US)
- Mayo Clinic (US)
- Office of the Director (US)
- Southwestern Medical Center (US)
- Mayo Clinic in Florida (US)
- Southwestern Medical Center (US)
- University of Virginia (US)
- The University of Texas Southwestern Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Journal of Clinical Investigation
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1172/jci198888
- Citations
- 1
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.81