The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities
This case widens the phenotypic spectrum of the recurrent p.Glu3Lys variant in <i>EHHADH</i>, which may be responsible for Fanconi syndrome and early onset hepatic dysfunction with cytolysis and hypoglycemia. Medium-chain fatty acids supplemented diet did not improve the disease.
Authors
- Valérie Desquiret‐Dumas (ORCID: https://orcid.org/0000-0001-9551-9400)
- A Ryckewaert
- Paul Rollier (ORCID: https://orcid.org/0000-0001-7303-8825)
- Vincent Procaccio (ORCID: https://orcid.org/0000-0002-1537-4684)
- Naïg Guéguen (ORCID: https://orcid.org/0000-0002-3094-8121)
- Pascal Reynier (ORCID: https://orcid.org/0000-0003-0802-4608)
- Estelle Colin (ORCID: https://orcid.org/0000-0001-7913-3938)
- Léna Damaj (ORCID: https://orcid.org/0000-0001-5364-7084)
- Chadi Homedan
- Victor Milon
- Magalie Barth
- Auriane Cospain (ORCID: https://orcid.org/0000-0002-0007-4195)
- Céline Bris (ORCID: https://orcid.org/0000-0003-2425-4446)
- Patrizia Amati‐Bonneau
- Dominique Bonneau (ORCID: https://orcid.org/0000-0002-6886-0969)
- Sylvie Odent (ORCID: https://orcid.org/0000-0002-0635-5940)
- Alban Ziegler (ORCID: https://orcid.org/0000-0003-2070-0242)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université Fédérale de Toulouse Midi-Pyrénées (FR)
- Université Rennes 2 (FR)
- Centre Hospitalier Universitaire de Rennes (FR)
- Université d'Angers (FR)
- Université de Rennes (FR)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-04-06
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101214
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00