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2018 ; 39
(ä): 19-23
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Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine
Translocase Deficiency
#MMPMID28689308
Mahapatra S
; Ananth A
; Baugh N
; Damian M
; Enns GM
JIMD Rep
2018[]; 39
(ä): 19-23
PMID28689308
show ga
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.