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

  • Sidharth Mahapatra
  • Amitha Ananth
  • Nancy Baugh
  • Mihaela Damian
  • Gregory M. Enns
Research Report
Part of the JIMD Reports book series (JIMD, volume 39)

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 

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Sidharth Mahapatra
    • 1
  • Amitha Ananth
    • 2
  • Nancy Baugh
    • 3
  • Mihaela Damian
    • 4
  • Gregory M. Enns
    • 5
  1. 1.Division of Critical Care, Department of PediatricsUniversity of Nebraska Medical CenterOmahaUSA
  2. 2.Pediatric Neurology, Brain and Spine InstituteProvidence Health and ServicesPortlandUSA
  3. 3.Department of Clinical NutritionLucile Packard Children’s Hospital, StanfordPalo AltoUSA
  4. 4.Division of Critical Care, Department of PediatricsStanford University Medical CenterPalo AltoUSA
  5. 5.Division of Medical Genetics, Department of PediatricsStanford University Medical CenterPalo AltoUSA

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