Carnitine Acylcarnitine Translocase Deficiency (CACT)



Carnitine-acylcarnitine translocase deficiency (CACT) is a condition in which the body is unable to break down certain fats. People affected by CACT are unable to break down some of the fats eaten into energy the body needs to function. This can cause too many unused fatty acids to build up in the body. There are two main forms of CACT, each differing by its age of onset: CACT in newborns and CACT in children. The signs of CACT are the same for these two forms, and include sleeping longer or more often, behavior changes, irritability, poor appetite, fever, diarrhea, vomiting, low blood sugar, weak muscle tone, seizures, and difficulty breathing.  Many of these signs may occur when a baby eats foods that the body cannot break down. Detecting the condition early and beginning treatment can help prevent some of the severe outcomes of CACT.

Condition Type:

Carnitine-acylcarnitine translocase deficiency (CACT) deficiency is very rare; at least 30 cases have been reported.

More Information for Parents:
Also known as:
  • CACT
  • Carnitine acylcarnitine carrier deficiency
  • CAC
  • CACT deficiency

Core Conditions