Largest cohort of primary carnitine deficiency in the Faroe Islands treated with L-carnitine

A 10-year follow-up of the world’s largest cohort of 139 patients with primary carnitine deficiency, located in the Faroe Islands, where the incidence is particularly high, and treated with L-carnitine supplementation, revealed that :

  • the vast majority of patients are alive and well (others died naturally, unrelated to the disease),
  • a third continue to experience symptoms of the disease, such as fatigue and poor stamina,
  • two-thirds experience side-effects such as diarrhea, abdominal pain and bad body odor (fishy smell).

 

Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands. Abrahamsen RK, Lund AM, Rasmussen J. JIMD Rep. 2023 Sept