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Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death. RESULTS: We report on a 7-year-old boy diagnosed with primar...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146900/ https://www.ncbi.nlm.nih.gov/pubmed/32276632 http://dx.doi.org/10.1186/s13023-020-01371-2 |
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author | Grünert, Sarah C. Tucci, Sara Schumann, Anke Schwendt, Meike Gramer, Gwendolyn Hoffmann, Georg F. Erbel, Michelle Stiller, Brigitte Spiekerkoetter, Ute |
author_facet | Grünert, Sarah C. Tucci, Sara Schumann, Anke Schwendt, Meike Gramer, Gwendolyn Hoffmann, Georg F. Erbel, Michelle Stiller, Brigitte Spiekerkoetter, Ute |
author_sort | Grünert, Sarah C. |
collection | PubMed |
description | BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death. RESULTS: We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister’s having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel. CONCLUSION: As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable. |
format | Online Article Text |
id | pubmed-7146900 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-71469002020-04-18 Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! Grünert, Sarah C. Tucci, Sara Schumann, Anke Schwendt, Meike Gramer, Gwendolyn Hoffmann, Georg F. Erbel, Michelle Stiller, Brigitte Spiekerkoetter, Ute Orphanet J Rare Dis Research BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death. RESULTS: We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister’s having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel. CONCLUSION: As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable. BioMed Central 2020-04-10 /pmc/articles/PMC7146900/ /pubmed/32276632 http://dx.doi.org/10.1186/s13023-020-01371-2 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Grünert, Sarah C. Tucci, Sara Schumann, Anke Schwendt, Meike Gramer, Gwendolyn Hoffmann, Georg F. Erbel, Michelle Stiller, Brigitte Spiekerkoetter, Ute Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
title | Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
title_full | Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
title_fullStr | Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
title_full_unstemmed | Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
title_short | Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
title_sort | primary carnitine deficiency – diagnosis after heart transplantation: better late than never! |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146900/ https://www.ncbi.nlm.nih.gov/pubmed/32276632 http://dx.doi.org/10.1186/s13023-020-01371-2 |
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