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Up to: Disorder of fatty acid oxidation and ketogenesis · Disorder of carnitine cycle and carnitine transport
Carnitine-acylcarnitine translocase deficiency
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.
This condition has no sub-types.