Carnitine-Acylcarnitine Translocase Deficiency

Overview

Type of disease: Rare conditions

Carnitine acylcarnitine translocase deficiency (CACT) is a rare genetic condition. CACT results from a mutation (error) in the SLC25A20 gene. People with CACT cannot use fats for energy. 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. CACT occurs when the body does not make enough carnitine acylcarnitine translocase (CACT). CACT is needed to take the fatty acids into the mitochondria. Fatty acids are the main energy for the heart and muscles and are an important during fasting (like sleeping) for the liver and other tissues. In addition, fatty acids will build up in the body and become toxic, damaging to the heart, liver and muscles.

There have only been 30 reported cases of CACT. Most infants with CACT do not survive. A milder form may not develop until early childhood. The symptoms of CACT include behavioral changes, sleeping longer than usual, fever, poor appetite, diarrhea, vomiting, low blood sugar, trouble breathing, and weak muscle tone (hypotonia). Even with treatment, there is a risk of liver failure, nervous system damage, coma and sudden death. Treatment includes a special diet. The supplement medium chain triglyceride (MCT) oil may be recommended as well. The MCT oil contains fats that can be broken down by individuals with CACT to produce energy.

CACT is autosomal recessive. Early diagnosis and treatment are necessary for survival. Many babies are screened at birth so that treatment may begin early, but the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

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