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...
Published in: | Journal of Inherited Metabolic Disease |
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ftcopenhagenunip:oai:pure.atira.dk:publications/d774e97f-55a0-49f7-9fd5-e7ed6c329242 2024-06-09T07:45:52+00:00 Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening Rasmussen, Jan Køber, Lars Lund, Allan M Nielsen, Olav W 2014-03 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 eng eng info:eu-repo/semantics/restrictedAccess Rasmussen , J , Køber , L , Lund , A M & Nielsen , O W 2014 , ' Primary Carnitine deficiency in the Faroe Islands : health and cardiac status in 76 adult patients diagnosed by screening ' , Journal of Inherited Metabolic Disease , vol. 37 , no. 2 , pp. 223-230 . https://doi.org/10.1007/s10545-013-9640-0 Adolescent Adult Arrhythmias Cardiac Cardiomyopathies Carnitine Denmark Dietary Supplements Female Humans Hyperammonemia Male Mass Screening Middle Aged Muscular Diseases Young Adult article 2014 ftcopenhagenunip https://doi.org/10.1007/s10545-013-9640-0 2024-05-16T11:29:16Z 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. Article in Journal/Newspaper Faroe Islands University of Copenhagen: Research Faroe Islands Journal of Inherited Metabolic Disease 37 2 223 230 |
institution |
Open Polar |
collection |
University of Copenhagen: Research |
op_collection_id |
ftcopenhagenunip |
language |
English |
topic |
Adolescent Adult Arrhythmias Cardiac Cardiomyopathies Carnitine Denmark Dietary Supplements Female Humans Hyperammonemia Male Mass Screening Middle Aged Muscular Diseases Young Adult |
spellingShingle |
Adolescent Adult Arrhythmias Cardiac Cardiomyopathies Carnitine Denmark Dietary Supplements Female Humans Hyperammonemia Male Mass Screening Middle Aged Muscular Diseases Young Adult Rasmussen, Jan Køber, Lars Lund, Allan M Nielsen, Olav W Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening |
topic_facet |
Adolescent Adult Arrhythmias Cardiac Cardiomyopathies Carnitine Denmark Dietary Supplements Female Humans Hyperammonemia Male Mass Screening Middle Aged Muscular Diseases Young Adult |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Rasmussen, Jan Køber, Lars Lund, Allan M Nielsen, Olav W |
author_facet |
Rasmussen, Jan Køber, Lars Lund, Allan M Nielsen, Olav W |
author_sort |
Rasmussen, Jan |
title |
Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening |
title_short |
Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening |
title_full |
Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening |
title_fullStr |
Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening |
title_full_unstemmed |
Primary Carnitine deficiency in the Faroe Islands:health and cardiac status in 76 adult patients diagnosed by screening |
title_sort |
primary carnitine deficiency in the faroe islands:health and cardiac status in 76 adult patients diagnosed by screening |
publishDate |
2014 |
url |
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 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
Rasmussen , J , Køber , L , Lund , A M & Nielsen , O W 2014 , ' Primary Carnitine deficiency in the Faroe Islands : health and cardiac status in 76 adult patients diagnosed by screening ' , Journal of Inherited Metabolic Disease , vol. 37 , no. 2 , pp. 223-230 . https://doi.org/10.1007/s10545-013-9640-0 |
op_rights |
info:eu-repo/semantics/restrictedAccess |
op_doi |
https://doi.org/10.1007/s10545-013-9640-0 |
container_title |
Journal of Inherited Metabolic Disease |
container_volume |
37 |
container_issue |
2 |
container_start_page |
223 |
op_container_end_page |
230 |
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1801375506315083776 |