Carnitine Palmitoyl Transferase Type II Deficiency (CPT-II) - Diseases and Conditions Identified in Children

Carnitine Palmitoyl Transferase Type II Deficiency (CPT-II)


Carnitine palmitoyltransferase type II deficiency (CPT-II) is an inborn error of metabolism, an inherited condition in which an enzyme, carnitine palmitoyltransferase II, in the body is either missing or not working well. It is considered a fatty acid oxidation condition because people with CPT-II are unable to change some fats into energy the body needs to function. This can cause too many unused fatty acids to build up in the body. There are three forms of CPT II deficiency: neonatal form, severe infantile form, and the myopathic form. The health effects and management of this condition depend on the form of CPT II deficiency. The age at which symptoms can be seen and the type of symptoms can vary. Symptoms may include low blood sugar (hypoglycemia), reddish-brown colored urine, muscle problems, liver problems, heart problems, kidney problems and/or other potential signs and symptoms. CPT-II deficiency can be a life-threatening condition. Physical over-exertion, extremes in temperature and going too long without food for any reason are just some examples of circumstances that could also trigger symptoms of CPT-II deficiency. Management often includes the avoidance of prolonged fasting and other triggers, a special diet, medication/supplements, other special precautions and emergency recommendations. Support groups are available to help connect families living with CPT-II deficiency with others who have experience or expertise with this condition.

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. 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.