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Carnitine-Acylcarnitine Translocase Deficiency

Carnitine-Acylcarnitine Translocase Deficiency Causes

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.

Carnitine-Acylcarnitine Translocase Deficiency Definition

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.

Carnitine-Acylcarnitine Translocase Deficiency Diagnosis

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.

Carnitine-Acylcarnitine Translocase Deficiency 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 Treatment

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.

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