Abstract
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare long-chain fatty acid oxidation disorder (LC-FAOD) with high mortality due to cardiomyopathy or lethal arrhythmia. Triheptanoin (UX007), an investigational drug composed of synthetic medium odd-chain triglycerides, is a novel therapy in development for LC-FAOD patients. However, cases of its safe and efficacious use to reverse severe heart failure in CACT deficiency are limited. Here, we present a detailed report of an infant with CACT deficiency admitted in metabolic crisis that progressed into severe cardiogenic shock who was successfully treated by triheptanoin. The child was managed, thereafter, on triheptanoin until her death at 3 years of age from a cardiopulmonary arrest in the setting of acute respiratory illness superimposed on chronic hypercarbic respiratory failure.
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Communicated by: Manuel Schiff
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Synopsis
This report details the safe use of triheptanoin to reverse cardiogenic shock in the case of a patient with carnitine-acylcarnitine translocase deficiency suffering severe metabolic crisis devolving into acute heart failure.
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As the submitting author, I confirm that all authors have adhered to strict ethical guidelines in the generation of this manuscript.
Contributor’s Statement
Sidharth Mahapatra contributed to the conception and design of this case presentation, the literature search, drafting the initial manuscript, and revising and reviewing the manuscript.
Amitha Ananth, Nancy Baugh, and Mihaela Damian reviewed and revised the manuscript.
Mihaela Damian contributed to the conception and design of the case presentation and gathered the data to generate the tables and figure.
Gregory Enns contributed to the conception and design of the case presentation, and reviewed and revised the manuscript. He was a member of the UX007 data safety monitoring board.
All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
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Mahapatra, S., Ananth, A., Baugh, N., Damian, M., Enns, G.M. (2017). Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 39. JIMD Reports, vol 39. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_36
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DOI: https://doi.org/10.1007/8904_2017_36
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