[MIM 212 138]

(deficiency in CACT )

Extremely rare. Pathology of the oxidation of the long chain fatty acids in the mitochondria. Carnitine-acylcarnitine translocase is a transporter protein located in the mitochondrial membrane allowing a mole per mole exchange between cytoplasmic acylcarnitine  and mitochondrial carnitine.

Symptoms begin in the neonatal period: signs of encephalopathy with hypoglycemia and hyperammonemia, disorders of heart rhythm (risk of sudden death). Sometimes secondary hepatomegaly and hypertrophic cardiomyopathy .

Treatment: carbohydrates-rich and low-fat diet, night gavage; supplements of L-carnitine; IV administration of glucose if fasting is required.

Anesthetic implications: 

Preoperative echocardiography; avoid prolonged fasting, administer a 5 % or 10 % glucose electrolytic solution and monitor blood glucose levels. Principles of a mitochondrial cytopathy management. Avoid using a continuous infusion of propofol as this carries a major risk of "propofol infusion syndrome" (PRIS).

References : 

• Morris AAM, Spierkoetter U. 
  Disorders of mitochondrial fatty acid oxidation and related metabolic pathways, In Inborn metabolic diseases, Saudubray J-M, van den Berghe G, Walter JH. 5th edition, Springer 2011, p 201-16.

Updated: September 2019