Carnitine Palmitoyl Transferase Type II Deficiency (CPT-II)

 

Carnitine palmitoyltransferase type II deficiency (CPT-II) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people with CPT-II are unable to change 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. The health outcomes and treatment of this condition depend on the age of onset and form of CPT II. There are three main types of CPT II deficiency: neonatal form, severe infantile form, and the least severe myopathic form. Some symptoms may include seizures, liver failure, enlarged heart, nervous system damage, or muscle pain and weakness. Detecting the condition early and beginning treatment can often prevent many of the severe health outcomes of the condition.

This condition is also known as: CPT-2 deficiency and carnitine palmitoyltransferase II deficiency.

To learn more about Carnitine palmitoyltransferase type II deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Carnitine palmitoyltransferase deficiency, type 2 and Baby's First Test: Carnitine palmitoyltransferase type II 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.