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Primary carnitine deficiency
Primary carnitine deficiency
by Alike Medical Team ∙ Updated on June 13, 2023
General
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.
1 people with Primary carnitine deficiency
Learn from others who are experiencing 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.
Note
☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.
National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention
☝ All information has been reviewed by certified physicians from Alike
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