Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands

Abstract Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across inner mitochondrial membrane β‐oxidation. The reported prevalence PCD in Faroe Islands 1:300 highest world. Faroese patient cohort has been closely monitored and we now report results from a 10‐year follow‐up study 139 patients. Four patients have died natural causes since diagnosis. There were no signs cardiac complications related to PCD. 70.5% an effect L‐carnitine treatment. 33.7% current symptoms with fatigue low stamina being most common. 65.1% had experienced side effects during Most common fish odor, abdominal pain, diarrhea. overall mean dosage was 66.3 mg/kg/day. Free p‐carnitine similar between male female on L‐carnitine—18.6 18.8 μmol/L, respectively. supplementation seems safe effective treatment when suffering are alive doing well more than 10 years after