What is the prognosis of primary carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
  • Print
Answer

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.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!