Infantile carnitine palmitoyltransferase II deficiency


Type of disease: Rare conditions

Infantile carnitine palmitoyltransferase II deficiency (infantile CPTII) 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 the infantile form begin during infancy or early childhood and include seizures, an enlarged liver (hepatomegaly), an enlarged and weakened heart (cardiomyopathy), and an irregular heartbeat (arrhythmia). If untreated, the disease can progress to the point of liver failure, damage to the brain and nerves, or coma.

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. CPTII is an autosomal recessive disease, meaning both copies of the CPTII gene must have the mutation or change.

Treatments includes a special diet and supplements and must be lifelong. Even with treatment, some children will develop kidney, liver or heart problems. Many babies are screened for CPTII so that treatment can begin early, but 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.

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