Primary carnitine deficiency
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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Primary carnitine deficiency.
Signs & symptoms
Symptoms include muscle weakness, fatigue, delayed motor development, poor feeding in a baby, and irritability.
Diagnosis
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
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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