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Case Reports
. 2025 Aug;12(4):3195-3199.
doi: 10.1002/ehf2.15283. Epub 2025 Apr 8.

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

Violette Goetz  1   2 , Bruno Lefort  3   4 , Magalie Barth  5   6 , Naïg Gueguen  6 , Céline Bris  5   6 , Emmanuelle Blanchard  7 , Isabelle Benz-de Bretagne  1   8   9 , Hélène Blasco  1   8   9 , Marine Tardieu  1   2 , François Labarthe  1   2   4
Affiliations
Case Reports

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

Violette Goetz et al. ESC Heart Fail. 2025 Aug.
No abstract available

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

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Conflict of interest statement

FL reports consulting fees from AlfaSigma, Biomarin and Sanofi Genzyme, outside the submitted work. The other authors reported no conflict of interest.

Figures

Figure 1
Figure 1
Ultrastructural alterations in muscle mitochondria from an infant with PPCS deficiency. Representative transmission electron microscopy (TEM) images revealed the presence of degenerative mitochondria (white arrowheads) with altered matrix and/or poorly preserved mitochondrial cristae. Scale bar: 1 μm.
Figure 2
Figure 2
Improvement of cardiac function with pantethine therapy in an infant with severe PPCS deficiency. Long‐term follow‐up of (A) left ventricular end‐diastolic diameter (LVEDD, expressed in SD for body area), (B) left ventricular ejection fraction (LVEF, %) and (C) NT‐ProBNP blood levels, before and during pantethine therapy (28 mg/kg/day). Normal ranges are in green. Long axis M mode of left ventricle before (D) and 6 months after introduction of panthetine (E) showing the normalization of systolic left ventricle function (LV shortening fraction improved from 20% to 45%).
Figure 3
Figure 3
The CoA biosynthetic pathway from vitamin B5 and the salvage pathway from pantethine. DPCK, dephospho‐CoA kinase; PANK, pantothenate kinase; PPAT, phosphopantetheine adenylyltransferase; PPCDC, phosphopantothenoylcysteine decarboxylase; PPCS, phosphopantothenoylcysteine synthetase.
See this image and copyright information in PMC

References

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