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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...

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Autores principales: Marques, Cristina, Silva, Catarina, Silva, Carina, Abreu, João Pedro, Ribeiro, Márcia, Guimas, Arlindo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: UMF “Gr. T. Popa” Iasi Publishing House 2023
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.
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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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