Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency
These patients may represent the first individuals with DECR1 deficiency, then defining within MASLD an autosomal-recessive entity, well corresponding to the reported steatotic liver disease in Decr1 knockout mice. DECR1 may need to be considered in the genetic work-up of MASLD.
Authors
- Kristijan Skok (ORCID: https://orcid.org/0000-0002-3027-8164)
- Markus A. Keller (ORCID: https://orcid.org/0000-0002-8654-9920)
- Benno Kohlmaier (ORCID: https://orcid.org/0000-0003-0685-689X)
- S. Sailer (ORCID: https://orcid.org/0000-0002-6375-5393)
- Carolin Lackner (ORCID: https://orcid.org/0000-0002-9809-4388)
- Alexander S. Knisely
- Andreas Janecke (ORCID: https://orcid.org/0000-0001-7155-0315)
- Johannes Zschocke (ORCID: https://orcid.org/0000-0002-0046-8274)
- Thomas Müller (ORCID: https://orcid.org/0000-0001-8908-5589)
- Greta Haselrieder
Institutions
- Innsbruck Medical University (AT)
- Universität Innsbruck (AT)
- Medical University of Graz (AT)
Publication Details
- Journal
- International Journal of Obesity
- Published
- 2024-09-14
- DOI
- https://doi.org/10.1038/s41366-024-01634-z
- Citations
- 1
- Primary Topic
- Liver Disease Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.39
Funders
- Austrian Science Fund
- Medizinische Universität Innsbruck
- Universität Innsbruck