Triheptanoin: A rescue therapy for cardiogenic shock in carnitine-acylcarnitine translocase deficiency

Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, Mihaela Damian, Gregory M. Enns

Research output: Chapter in Book/Report/Conference proceedingChapter

5 Scopus citations

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.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages19-23
Number of pages5
DOIs
StatePublished - 2018

Publication series

NameJIMD Reports
Volume39
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Cardiogenic shock
  • Carnitine-acylcarnitine translocase deficiency
  • Long-chain fatty acid oxidation disorder
  • Triheptanoin
  • UX007

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Fingerprint Dive into the research topics of 'Triheptanoin: A rescue therapy for cardiogenic shock in carnitine-acylcarnitine translocase deficiency'. Together they form a unique fingerprint.

  • Cite this

    Mahapatra, S., Ananth, A., Baugh, N., Damian, M., & Enns, G. M. (2018). Triheptanoin: A rescue therapy for cardiogenic shock in carnitine-acylcarnitine translocase deficiency. In JIMD Reports (pp. 19-23). (JIMD Reports; Vol. 39). Springer. https://doi.org/10.1007/8904_2017_36