What is it?

Carnitine is a substance used in the body to process fat. In carnitine deficiency, there is not sufficient carnitine for the body cells. Primary carnitine deficiency is a rare genetic condition that is characterized by low carnitine levels in the muscle due to a problem getting it from the blood to the muscles. Due to low levels of carnitine, the body can’t produce enough energy, especially during fasting.

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Signs & symptoms

Symptoms include muscle weakness, fatigue, delayed motor development, poor feeding in a baby, and irritability.


Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include blood tests, urine tests, exercise tests, and genetic tests.


Treatment includes L-carnitine supplements.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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