Anesthetic Management of a Patient With Carnitine-Acylcarnitine Translocase Deficiency

Abstract

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of mitochondrial fatty acid metabolism that results in an acute encephalopathic and/or myopathic disorder. Carnitine and CACT play an essential role in the transport of fatty acids into the mitochondria. The deficiency leads to the reduced transport of long-chain fatty acids into the mitochondria, thereby limiting the use of fatty acids for energy production especially during prolonged fasting, febrile illnesses, increased muscular activity, and other periods of systemic stress. We present the anesthetic management of a 10-year-old girl, diagnosed with CACT deficiency at birth, who presented for multiple osteotomies. The preoperative evaluation of such patients is presented, previous reports of anesthetic care are reviewed, and options for intraoperative care are discussed.