What is primary carnitine deficiency?

Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. In people with primary carnitine deficiency, proteins called carnitine transporters do not work properly.

These proteins normally bring carnitine into cells and prevent the escape of carnitine from the body in urine. Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and often include changes in brain tissue (encephalopathy) resulting in functional abnormalities; an enlarged, poorly pumping heart (cardiomyopathy); confusion; vomiting; muscle weakness; and low blood sugar (hypoglycemia). Serious complications such as heart failure, liver problems, coma, and sudden unexpected death are also a risk.

Severe illness due to primary carnitine deficiency can be triggered by periods of fasting ... more.

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