title: Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.
abstract: BACKGROUND
  Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia. The prevalence in the Faroe Islands is the highest reported in the world (1:300). A nationwide screening program identified 76 Faroese adult patients (15-80 years) with Primary Carnitine Deficiency (PCD). We describe prior and current health status and symptoms in these patients, especially focusing on cardiac characteristics.
  
  
  METHODS
  Upon identification, patients were immediately admitted for physical examination, ECG, blood tests and initiation of L-carnitine supplementation. Medical records were reviewed and patients were interviewed. Echocardiography and blood tests were performed in 35 patients before and after L-carnitine supplementation.
  
  
  RESULTS
  All patients were either asymptomatic or had minor symptoms when diagnosed. Echocardiography including LVEF, global longitudinal strain and dimensions were normal apart from left ventricular hypertrophy with normal systolic function in one young male. Symptoms, e.g. fatigue, were reported in 43 % with a reduction to 12 % (p < 0.01) following initiation of L-carnitine supplementation. Eighty two % reported participation in sports of which 52 % were on a competitive level. ECGs showed limited changes and blood tests were normal. Mean plasma free carnitine increased from 6.1 μmol/L to 15.1 μmol/L (p < 0.01) within 50 days of L-carnitine supplementation.
  
  
  CONCLUSIONS
  PCD in adults can cause serious symptoms, but adult Faroese patients identified through a screening program were predominantly asymptomatic with a normal cardiac structure and function.
authors: Department of Internal Medicine, National Hospital, FO-100, Thorshavn, the Faroe Islands, lsjanra@ls.fo.
authors: Jan
authors: J
authors: Rasmussen
authors: Lars
authors: L
authors: Køber
authors: Allan M
authors: AM
authors: Lund
authors: Olav W
authors: OW
authors: Nielsen
mesh_terms: D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000097:blood* / Q000453:epidemiology; D009202:Cardiomyopathies / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology; D002331:Carnitine / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use; D003718:Denmark / Q000453:epidemiology; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D009135:Muscular Diseases / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology; D055815:Young Adult
chemical_list: D002331:Carnitine
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