Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands
Abstract Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across the inner mitochondrial membrane for β‐oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient coho...
Published in: | JIMD Reports |
---|---|
Main Authors: | , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Wiley
2023
|
Subjects: | |
Online Access: | https://doi.org/10.1002/jmd2.12383 https://doaj.org/article/5d36e297b4c347a7b177a05794e1fc54 |
id |
ftdoajarticles:oai:doaj.org/article:5d36e297b4c347a7b177a05794e1fc54 |
---|---|
record_format |
openpolar |
spelling |
ftdoajarticles:oai:doaj.org/article:5d36e297b4c347a7b177a05794e1fc54 2023-12-03T10:22:26+01:00 Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands Rannvá K. Abrahamsen Allan M. Lund Jan Rasmussen 2023-11-01T00:00:00Z https://doi.org/10.1002/jmd2.12383 https://doaj.org/article/5d36e297b4c347a7b177a05794e1fc54 EN eng Wiley https://doi.org/10.1002/jmd2.12383 https://doaj.org/toc/2192-8312 2192-8312 doi:10.1002/jmd2.12383 https://doaj.org/article/5d36e297b4c347a7b177a05794e1fc54 JIMD Reports, Vol 64, Iss 6, Pp 453-459 (2023) Faroe Islands inherited metabolic disease neonatal screening primary carnitine deficiency sudden death Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 article 2023 ftdoajarticles https://doi.org/10.1002/jmd2.12383 2023-11-05T01:37:16Z Abstract Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across the inner mitochondrial membrane for β‐oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient cohort has been closely monitored and we now report results from a 10‐year follow‐up study of 139 PCD patients. Four patients have died of natural causes since diagnosis. There were no signs of cardiac complications related to PCD. 70.5% reported an effect of L‐carnitine treatment. 33.7% reported current symptoms with fatigue and low stamina being the most common. 65.1% had experienced side effects during L‐carnitine treatment. Most common side effects were fish odor, abdominal pain, and diarrhea. The overall mean L‐carnitine dosage was 66.3 mg/kg/day. Free p‐carnitine was similar between male and female patients on L‐carnitine—18.6 and 18.8 μmol/L, respectively. L‐carnitine supplementation seems to be a safe and effective treatment when suffering from PCD. PCD patients in the Faroe Islands are alive and doing well more than 10 years after diagnosis. Article in Journal/Newspaper Faroe Islands Directory of Open Access Journals: DOAJ Articles Faroe Islands JIMD Reports 64 6 453 459 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Faroe Islands inherited metabolic disease neonatal screening primary carnitine deficiency sudden death Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 |
spellingShingle |
Faroe Islands inherited metabolic disease neonatal screening primary carnitine deficiency sudden death Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Rannvá K. Abrahamsen Allan M. Lund Jan Rasmussen Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands |
topic_facet |
Faroe Islands inherited metabolic disease neonatal screening primary carnitine deficiency sudden death Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 |
description |
Abstract Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across the inner mitochondrial membrane for β‐oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient cohort has been closely monitored and we now report results from a 10‐year follow‐up study of 139 PCD patients. Four patients have died of natural causes since diagnosis. There were no signs of cardiac complications related to PCD. 70.5% reported an effect of L‐carnitine treatment. 33.7% reported current symptoms with fatigue and low stamina being the most common. 65.1% had experienced side effects during L‐carnitine treatment. Most common side effects were fish odor, abdominal pain, and diarrhea. The overall mean L‐carnitine dosage was 66.3 mg/kg/day. Free p‐carnitine was similar between male and female patients on L‐carnitine—18.6 and 18.8 μmol/L, respectively. L‐carnitine supplementation seems to be a safe and effective treatment when suffering from PCD. PCD patients in the Faroe Islands are alive and doing well more than 10 years after diagnosis. |
format |
Article in Journal/Newspaper |
author |
Rannvá K. Abrahamsen Allan M. Lund Jan Rasmussen |
author_facet |
Rannvá K. Abrahamsen Allan M. Lund Jan Rasmussen |
author_sort |
Rannvá K. Abrahamsen |
title |
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands |
title_short |
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands |
title_full |
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands |
title_fullStr |
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands |
title_full_unstemmed |
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands |
title_sort |
patients with primary carnitine deficiency treated with l‐carnitine are alive and doing well—a 10‐year follow‐up in the faroe islands |
publisher |
Wiley |
publishDate |
2023 |
url |
https://doi.org/10.1002/jmd2.12383 https://doaj.org/article/5d36e297b4c347a7b177a05794e1fc54 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
JIMD Reports, Vol 64, Iss 6, Pp 453-459 (2023) |
op_relation |
https://doi.org/10.1002/jmd2.12383 https://doaj.org/toc/2192-8312 2192-8312 doi:10.1002/jmd2.12383 https://doaj.org/article/5d36e297b4c347a7b177a05794e1fc54 |
op_doi |
https://doi.org/10.1002/jmd2.12383 |
container_title |
JIMD Reports |
container_volume |
64 |
container_issue |
6 |
container_start_page |
453 |
op_container_end_page |
459 |
_version_ |
1784270367628460032 |