Carnitine-Acylcarnitine Translocase Deficiency

Below you will find more information about Carnitine-Acylcarnitine Translocase Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Carnitine-Acylcarnitine Translocase Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Carnitine-Acylcarnitine Translocase Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Carnitine-Acylcarnitine Translocase Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Carnitine-acylcarnitine translocase deficiency is an uncommon fatty-acid oxidation disorder, which stops the body from transforming essential fatty acids to energy. Carnitine is generally acquired through one's diet, and is utilized by body cells in processing fats and producing energy. Individuals with this kind of deficiency have defective enzyme, preventing the transportation of fatty acids into the mitochondria's innermost part for processing.


Since symptoms and signs of the disorder may vary in different individuals, only a physician can provide sufficient diagnosis of the disorder through proper examination of symptoms.


In a number of cases, diets that are low in long-chain fats, high-carbohydrate with supplement of MCT, as well as frequent feeding are found to be helpful. Supplementation of Carnitine has also been used, however its efficacy remains unknown. Aggressive treatments of hyperammonemia, hypoglycemia, and lipolysis prevention in newborns can be lifesaving.

Symptoms and Signs

Signs of this deficiency usually start within a few hours from birth. Irregular heartbeat, breathing problems, and seizures are frequently the first symptoms. The disorder can also result to very low ketones levels, as well hypoglycemia or low levels of blood sugar. Other symptoms include the presence of ammonia in blood, heart abnormalities, muscle weakness, and enlarged liver.


Carnitine-acylcarnitine translocase deficiency is caused by the mutations of a gene called SLC25A20. These mutations lead to creating a faulty version of transporter known as carnitine-acylcarnitine translocase. The shortage of having functional transporters stops the fatty acids of the body from being processed, and being transformed into energy. This leads to characteristic symptoms and signs of the disorder. The condition also has an inheritance pattern known as autosomal recessive.

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