What is Carnitine palmitoyl transferase 2 deficiency?
• Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life. Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Carnitine palmitoyl transferase 2 deficiency as a “rare disease”.