Carnitine Palmitoyl Transferase I Deficiency (CPT-IA) - Diseases and Conditions Identified in Children

Carnitine Palmitoyl Transferase type I Deficiency (CPT-IA)


Carnitine palmitoyltransferase I deficiency (CPT-IA) is an inborn error of metabolism, an inherited condition in which the body is unable to break down certain fats, particularly during periods without enough food. It is considered a fatty acid oxidation condition because people affected by CPT-IA are unable to change some fats into the energy the body needs to function. This can cause too many unused fatty acids to build up in the body. Symptoms of CPT-IA can vary and may include poor feeding, low blood sugar (hypoglycemia), extreme tiredness/lethargy, liver problems, a high level of carnitine in the blood and/or other potential signs and symptoms. CPT-IA can be a life threatening condition. Support groups are available to help connect families living with CPT-IA deficiency with others who have experience or expertise with fatty acid oxidation conditions.

For more information about Carnitine palmitoyltransferase I deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Carnitine palmitoyltransferase deficiency, type 1A and Baby's First Test: Carnitine palmitoyltransferase I 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.