What is carnitine-acylcarnitine translocase deficiency?

Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids.

The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy.

Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often ... more.

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