Carnitine-acylcarnitine translocase deficiency
Carnitine-acylcarnitine translocase deficiency
Definition
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Also known as CACT deficiency, carnitine-acylcarnitine translocase deficiency — per MONDO