What is the prognosis of primary carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Patients with primary carnitine deficiency have excellent prognosis with oral carnitine supplementation.

If the disorder is unrecognized, mortality may occur from cardiac failure, arrhythmias, or sudden death.

Lifelong treatment with L-carnitine and avoidance of fasting are required. Hypoglycemia or sudden deaths from arrhythmias (even without cardiomyopathy) have been reported in patients who stop their carnitine supplementation against medical advice.

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