About Carnitine-acylcarnitine translocase deficiency

What is Carnitine-acylcarnitine translocase deficiency?

Carnitine-acylcarnitine translocase deficiency is an inherited disorder that affects the body's ability to use certain fats for energy, especially during periods without food (fasting). It is caused by a deficiency of the enzyme carnitine-acylcarnitine translocase, which is responsible for transporting fatty acids into the mitochondria, where they are broken down and used for energy. Symptoms of this disorder can include low blood sugar, seizures, and muscle weakness. Treatment typically involves a combination of dietary changes, supplements, and medications.

What are the symptoms of Carnitine-acylcarnitine translocase deficiency?

The symptoms of Carnitine-acylcarnitine translocase deficiency can vary from person to person, but may include:

-Weakness
-Fatigue
-Muscle pain
-Loss of muscle mass
-Poor feeding
-Vomiting
-Lethargy
-Irritability
-Seizures
-Developmental delay
-Hypoglycemia
-Cardiomyopathy
-Liver dysfunction
-Hypotonia
-Hyperammonemia

What are the causes of Carnitine-acylcarnitine translocase deficiency?

Carnitine-acylcarnitine translocase deficiency is caused by mutations in the SLC25A20 gene. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase, which is found in the inner membrane of mitochondria. This protein helps transport fatty acids into the mitochondria, where they can be broken down to produce energy. Mutations in the SLC25A20 gene reduce or eliminate the activity of carnitine-acylcarnitine translocase, which prevents fatty acids from entering the mitochondria and leads to a buildup of these molecules in the cells. This buildup of fatty acids can cause a variety of symptoms, including seizures, muscle weakness, and heart problems.

What are the treatments for Carnitine-acylcarnitine translocase deficiency?

1. Dietary therapy: A low-fat, low-protein diet is recommended to reduce the amount of carnitine needed by the body.

2. Supplementation: Supplementation with L-carnitine is recommended to help the body use fatty acids for energy.

3. Medication: Medications such as riboflavin, biotin, and thiamine may be prescribed to help the body use fatty acids for energy.

4. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in the body.

5. Gene therapy: Gene therapy may be used to replace the defective gene in the body.

What are the risk factors for Carnitine-acylcarnitine translocase deficiency?

1. Genetic inheritance: Carnitine-acylcarnitine translocase deficiency is an inherited disorder caused by mutations in the SLC25A20 gene.

2. Age: The disorder is more common in infants and young children.

3. Gender: The disorder is more common in males than females.

4. Ethnicity: The disorder is more common in people of Mediterranean, Middle Eastern, and North African descent.

Is there a cure/medications for Carnitine-acylcarnitine translocase deficiency?

Yes, there are medications available to treat Carnitine-acylcarnitine translocase deficiency. These medications are used to replace the missing enzyme and help the body to metabolize fatty acids. Additionally, dietary changes may be recommended to reduce the amount of fat in the diet and increase the amount of carbohydrates.