Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening
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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.
In: Journal of Inherited Metabolic Disease, Vol. 37, No. 2, 03.2014, p. 223-230.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Primary Carnitine deficiency in the Faroe Islands
T2 - health and cardiac status in 76 adult patients diagnosed by screening
AU - Rasmussen, Jan
AU - Køber, Lars
AU - Lund, Allan M
AU - Nielsen, Olav W
PY - 2014/3
Y1 - 2014/3
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Arrhythmias, Cardiac
KW - Cardiomyopathies
KW - Carnitine
KW - Denmark
KW - Dietary Supplements
KW - Female
KW - Humans
KW - Hyperammonemia
KW - Male
KW - Mass Screening
KW - Middle Aged
KW - Muscular Diseases
KW - Young Adult
U2 - 10.1007/s10545-013-9640-0
DO - 10.1007/s10545-013-9640-0
M3 - Journal article
C2 - 23963628
VL - 37
SP - 223
EP - 230
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 2
ER -
ID: 138504337