Carnitine palmitoyltransferase type II deficiency (CPT-II) is a rare genetic condition. CPT-II results from a mutation (error) in the CPT2 gene. People with CPT-II cannot use certain fats for energy. Normally, fats are broken down by enzymes (special proteins) into fatty acids. Fatty acids must be taken into the mitochondria of the cell to make energy. In order to be moved, long chain fatty acids must have carnitine attached to them. Once inside the carnitine needs to be taken off by the enzyme carnitine palmitoyltransferase II. If there is not enough of this enzyme, the long chain fatty acids can’t be used to make energy. Long chain fatty acids are an important energy source for the liver and other tissues especially during fasting (such as sleep). In addition, fatty acids will build up in the body and become toxic, damaging to the heart, liver and muscles.
There are 3 different types of CPT-II: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The myopathic or classic form is the most common and symptoms usually begin in adulthood. Please view the separate entries of each form for specific symptoms Treatment for CPT-II includes a special diet. The supplement medium chain triglyceride (MCT) oil may also be recommended. MCT oil contains fats that can be broken down by individuals with CACT to produce energy.
CPT-II is autosomal recessive. Early treatment is very important. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test.Talk with your doctor to about the most current treatment options. Support groups are a good source of information. A genetic counselor will help you understand the genetics.