The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities

The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities

Background: The recurrent pathogenic variant c.7G>A p.Glu3Lys in the EHHADH gene is responsible for an autosomal dominant form of Fanconi renotubular syndrome. This variant leads to mislocalization of peroxisomal EHHADH protein to the mitochondria, thereby impairing mitochondrial function. To dat...

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Main Authors: P. Rollier, A. Cospain, M. Barth, V. Milon, N. Gueguen, C. Homedan, V. Desquiret, C. Bris, E. Colin, L. Damaj, A. Ryckewaert, P. Reynier, S. Odent, P. Amati-Bonneau, V. Procaccio, D. Bonneau, A. Ziegler
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
EHHADH
Fanconi renotubular syndrome
Hepatic dysfunction
Hypoglycemia
Medium-chain fatty acids
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000291
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