Carnitine palmitoyltransferase II deficiency, lethal neonatal
Type of disease: Rare conditions
Carnitine palmitoyltransferase II deficiency (CPTII), lethal neonatal form is a rare genetic condition. It is a fatty acid oxidation disorder, which means the body can’t use fats to make energy. The heart and muscles rely on fats for energy, and during times of fasting (like when we sleep), the liver and many other organs also use fats. Symptoms of this disorder begin within a few hours to a few days after birth and include seizures, trouble breathing, a weakened and enlarged heart (cardiomyopathy) and an irregular heartbeat (arrhythmia). The disease quickly progresses and can result in kidney, liver, or respiratory (breathing) failure.
CPTII is caused by a mutation (change) to the CPT2 gene. This gene provides the code to make the protein, carnitine palmitoyltransferase II (CPII). Normally, fats are broken down in our cells into their smaller parts or fatty acids. Fatty acids are then moved into the mitochondria (the part of cell where energy is made) using carnitine. Once inside the mitochondria, CPII takes the carnitine off, so the fatty acids can then be used for energy. If there is a mutation to the CPT2 gene, there is not enough CPII made to remove the carnitine. The lethal neonatal form is so severe because very little (if any) working CPII is made, so very little energy can be made from fats. CPTII is an autosomal recessive disease, meaning both copies of the CPTII gene must have the mutation or change.
At present there is no cure for the neonatal lethal form. Many babies are screened for CPTII, but the newborn screening conditions vary by state. For more information, visit Baby’s First Test. Research is ongoing, so talk with your baby’s doctor about the most current treatment options. Genetic counselors and support groups are also good sources of information.