Carnitine Acylcarnitine Translocase Deficiency (CACT) - Diseases and Conditions Identified in Children

Carnitine-Acylcarnitine Translocase Deficiency (CACT)


Carnitine-acylcarnitine translocase deficiency (CACT) is an inborn error of metabolism, an inherited condition. It is considered a fatty acid oxidation condition because people affected by CACT deficiency are unable to break down fats 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 can include breathing problems, low blood sugar (hypoglycemia), a high level of ammonia in the blood, extreme tiredness/lethargy, seizures, an irregular heartbeat and/or other heart problems, muscle problems, liver problems and/or other potential signs and symptoms. CACT deficiency can be a life-threatening condition. Support groups are available to help connect families living with CACT deficiency with others who have experience or expertise with this condition.

For more information about Carnitine acylcarnitine translocase deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Carnitine acylcarnitine translocase deficiency and Baby's First Test: Carnitine acylcarnitine translocase deficiency. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.