Carnitine Acylcarnitine Translocase Deficiency (CACT)


Carnitine acylcarnitine translocase deficiency (CACT) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by CACT are unable to break down some of the fats they eat into energy the body needs to function. This can cause too many unused fatty acids to build up in the body. Signs and symptoms of this condition may begin soon after birth and include breathing problems, seizures, and an irregular heartbeat. Detecting the condition early and beginning treatment can help prevent some of the severe outcomes of CACT.

This condition is also known as: Carnitine transporter deficiency, CDT, CACT deficiency, CAT, CAC, and carnitine acylcarnitine carrier deficiency.

For more information about Carnitine acylcarnitine translocase deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Carnitine Transporter Deficiency and Baby's First Test: Carnitine acylcarnitine translocase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Board Certified Metabolic Providers (PDF: 2 pages/204KB) for a listing of medical specialists and clinic contact information.