DWQA QuestionsCPT2 and Carnitine
Emilio Galan asked 4 years ago
My daughter was recently diagnosed with CPT2 (mild version). She was prescribed with levocarnitine. What exactly is the effect of Levocarnitine for CPT2 patients? It appears there is a debate on whether it helps or not.  What is your opinion on levocarnitine ? If it doesn’t help, could it be harmfull ?

1 Answers
INFORM Physician answered 4 years ago
Ms. Galen,
The use of carnitine in long chain fatty acid oxidation disorders including CPT2 deficiency is indeed controversial. Carnitine is necessary for fats to enter the mitochondria for metabolism and the role of CPT2 is to release fats bound to carnitine back into the mitochondria. In CPT2 deficiency, this release does not occur properly and thus much of the body’s carnitine is bound to fats and not available to do its usual job. In severe CPT2 deficiency, giving more carnitine doesn’t really help, because no matter how much you give, the body can’t use it. There is also some concern that long chain acylcarnitines (the bound form of carnitine) can cause problems with the heart rhythm that can be dangerous. The situation in milder CPT2 is a little different because most patients have a little bit of functional CPT2 activity and thus giving carnitine can allow it to work at least to the extent it can. Because the risk of heart problems is theoretical (it has never actually been demonstrated in patients) and the positive on enzyme activity has been shown in lab studies, I tend to err on the side of treating. However, this recommendation is directly dependent on the CPT2 gene mutations present in a patient. Most milder patients have at least one copy (and usually 2) of a common mild mutation that can respond to carnitine. I suspect your daughter falls into this category and thus the reason for your metabolic doctors using carnitine. I hope this helps. Dr. Vockley