DWQA QuestionsCategory: QuestionsPrimary Carnitine Deficiency
amulya yalamanchili asked 3 years ago
I was diagnosed with primary carnitine deficiency after a newborn screening.  I was advised to take carnitine supplements due to nursing.  However, the supplements did not change my l carnitine levels.  I stopped taking the supplements after 1 month.  This happened in 2015.  I have no symptoms and have normal blood pressure.  I have a physical every year.  Is there any treatments needed for individuals with no symptoms?

1 Answers
INFORM Physician answered 3 years ago
Ms. Yalamanchili, there are well documented long term risks in individuals with primary carntine deficiency (carnation transporter deficiency) that are reduced if carnitine treatment is continued. They include cardiomyopathy and heart rhythm problems that can be life threatening and even result in sudden death. You should discuss this risk with your metabolic physician and consider therapy. Also, be sure you are on high dose treatment (300 mg/kg/day) and not the lower doses used in other diseases. Hope this helps. Dr. Vockley