Pantethine therapy dramatically rescues end-stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Fail. 2025 Apr 8. doi: 10.1002/ehf2.15283. Online ahead of print.

Violette Goetz^{1

2}, Bruno Lefort^{3

4}, Magalie Barth^{5

6}, Naïg Gueguen⁶, Céline Bris^{5

6}, Emmanuelle Blanchard⁷, Isabelle Benz-de Bretagne^{1

8

9}, Hélène Blasco^{1

8

9}, Marine Tardieu^{1

2}, François Labarthe^{1

2

4}

¹ Reference Center for Inborn Errors of Metabolism ToTeM, Tours, France.
² Pediatrics Department CHRU de Tours, Tours, France.
³ Institut des Cardiopathies Congénitales de Tours, CHRU de Tours, Tours, France.
⁴ Inserm U1069 N2C, Université de Tours, Tours, France.
⁵ Department of Medical Genetics, CHU Angers, Angers, France.
⁶ UMR CNRS 6015-INSERM U1083, MitoVasc Institute, University of Angers, and Laboratory of Biochemistry and Molecular Biology, University Hospital, Angers, France.
⁷ Plateforme IBiSA de Microscopie Electronique, and Inserm U1259, MAVIVHe, Université de Tours et CHRU de Tours, Tours, France.
⁸ Laboratoire de Biochimie et Biologie Moléculaire, CHRU de Tours, Tours, France.
⁹ Inserm UMR1253 iBrain, Université de Tours, Tours, France.

No abstract available

Keywords: Metabolic therapy; PPCS deficiency; Vitamin B5 (pantothenate).

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