Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

Sidharth Mahapatra; Amitha Ananth; Nancy Baugh; Mihaela Damian; Gregory M Enns

doi:10.1007/8904_2017_36

Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

JIMD Rep. 2018:39:19-23. doi: 10.1007/8904_2017_36. Epub 2017 Jul 9.

Authors

Sidharth Mahapatra¹, Amitha Ananth², Nancy Baugh³, Mihaela Damian⁴, Gregory M Enns⁵

Affiliations

¹ Division of Critical Care, Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, 68198, USA. smahapatra@childrensomaha.org.
² Pediatric Neurology, Brain and Spine Institute, Providence Health and Services, Portland, OR, 97225, USA.
³ Department of Clinical Nutrition, Lucile Packard Children's Hospital, Stanford, Palo Alto, CA, 94304, USA.
⁴ Division of Critical Care, Department of Pediatrics, Stanford University Medical Center, Palo Alto, CA, 94304, USA.
⁵ Division of Medical Genetics, Department of Pediatrics, Stanford University Medical Center, Palo Alto, CA, 94304, USA.

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.

Keywords: Cardiogenic shock; Carnitine-acylcarnitine translocase deficiency; Long-chain fatty acid oxidation disorder; Triheptanoin; UX007.