Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening

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 p...

Full description

Bibliographic Details
Published in:Journal of Inherited Metabolic Disease
Main Authors: Rasmussen, Jan, Køber, Lars, Lund, Allan M, Nielsen, Olav W
Format: Article in Journal/Newspaper
Language:English
Published: 2014
Subjects:
Adolescent
Adult
Arrhythmias
Cardiac
Cardiomyopathies
Carnitine
Denmark
Dietary Supplements
Female
Humans
Hyperammonemia
Male
Mass Screening
Middle Aged
Muscular Diseases
Young Adult
Faroe Islands
Online Access:https://curis.ku.dk/portal/da/publications/primary-carnitine-deficiency-in-the-faroe-islands(d774e97f-55a0-49f7-9fd5-e7ed6c329242).html
https://doi.org/10.1007/s10545-013-9640-0
Description
Summary: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. CONCLUSION: 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.

Similar Items