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From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency
Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challengin...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
UMF “Gr. T. Popa” Iasi Publishing House
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088049/ https://www.ncbi.nlm.nih.gov/pubmed/37056952 http://dx.doi.org/10.22551/2023.38.1001.10238 |
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author | Marques, Cristina Silva, Catarina Silva, Carina Abreu, João Pedro Ribeiro, Márcia Guimas, Arlindo |
author_facet | Marques, Cristina Silva, Catarina Silva, Carina Abreu, João Pedro Ribeiro, Márcia Guimas, Arlindo |
author_sort | Marques, Cristina |
collection | PubMed |
description | Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment. Carnitine palmitoytransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, with the adulthood form requiring additional external triggers. The authors present a case of a young-male adult with recurrent episodes of rhabdomyolysis, one of them presented with acute renal failure and acute hepatitis. The diagnostic is demanding, which requires a high level of suspicion. The adequate treatment of these patients improves the muscle function and prevents other episodes of severe rhabdomyolysis. |
format | Online Article Text |
id | pubmed-10088049 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | UMF “Gr. T. Popa” Iasi Publishing House |
record_format | MEDLINE/PubMed |
spelling | pubmed-100880492023-04-12 From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency Marques, Cristina Silva, Catarina Silva, Carina Abreu, João Pedro Ribeiro, Márcia Guimas, Arlindo Arch Clin Cases Case Report Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment. Carnitine palmitoytransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, with the adulthood form requiring additional external triggers. The authors present a case of a young-male adult with recurrent episodes of rhabdomyolysis, one of them presented with acute renal failure and acute hepatitis. The diagnostic is demanding, which requires a high level of suspicion. The adequate treatment of these patients improves the muscle function and prevents other episodes of severe rhabdomyolysis. UMF “Gr. T. Popa” Iasi Publishing House 2023-03-27 /pmc/articles/PMC10088049/ /pubmed/37056952 http://dx.doi.org/10.22551/2023.38.1001.10238 Text en https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Marques, Cristina Silva, Catarina Silva, Carina Abreu, João Pedro Ribeiro, Márcia Guimas, Arlindo From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency |
title | From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency |
title_full | From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency |
title_fullStr | From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency |
title_full_unstemmed | From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency |
title_short | From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency |
title_sort | from recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase ii deficiency |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088049/ https://www.ncbi.nlm.nih.gov/pubmed/37056952 http://dx.doi.org/10.22551/2023.38.1001.10238 |
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