Carnitine Palmitoyltransferase, Type II (CPT-II)



Carnitine palmitoyltransferase, type II (CPT-II) is a condition in which the body is unable to break down certain fats. People affected with CPT-II are unable to change some of the fats eaten 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 CPT-II depend on the age of onset. There are three main forms of CPT-II, each differing in the age of onset: an extremely severe form in newborns, a severe form in babies and young children, and a mild form in adults. Most individuals with CPT-II have the classic adult form. Classic CPT-II has different signs than CPT-II in babies or children. Signs of CPT-II in babies include weak muscle tone, sleeping longer or more often, behavior changes, irritability, poor appetite, fever, diarrhea, vomiting, low blood sugar, developmental delays, trouble breathing, and seizures. Many of these signs may occur when a baby eats foods that the body cannot break down. Detecting the condition early and beginning treatment can often prevent many of the severe health outcomes of CPT-II.

Condition Type:

Carnitine palmitoyltransferase, type II (CPT-II) is a very rare condition. There are three main forms of CPT-II, which differ in the age of onset. The neonatal form has been reported in 18 cases. The form that affects babies and young children has been reported in approximately 30 cases. Classic CPT-II generally affects adults, and it is the most common form. It has been reported in more than 300 cases.

More Information for Parents:
Also known as:
  • Carnitine palmitoyltransferase II deficiency
  • Carnitine palmitoyltransferase deficiency type 2A
  • AlternatiCPT-2Ave Name 3

Core Conditions