Carnitine Palmitoyl Transferase I Deficiency (CPT-IA)

 

Carnitine palmitoyltransferase I deficiency (CPT-IA) is a condition in which the body is unable to break down certain fats, particularly in periods without food. It is considered a fatty acid oxidation condition because people affected by CPT-IA are unable to change some of the fats they eat and store in their body into the energy the body needs to function. This can cause too many unused fatty acids to build up in the body. The severity of this condition varies among individuals. CPT-IA can cause liver problems, seizures, nervous system damage, or death. Detecting the condition early and beginning treatment can often prevent the severe outcomes of CPT-IA.

This condition is also known as: carnitine palmitoyltransferase deficiency-type 1A, CPT-1 deficiency, Arctic Variant CPT-1A.

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. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.