Cristina Marques, Catarina Silva, Carina Silva, João Pedro Abreu, Márcia Ribeiro, Arlindo Guimas
{"title":"从年轻成人复发性横纹肌溶解到肉碱棕榈酰转移酶II缺乏。","authors":"Cristina Marques, Catarina Silva, Carina Silva, João Pedro Abreu, Márcia Ribeiro, Arlindo Guimas","doi":"10.22551/2023.38.1001.10238","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"10 1","pages":"42-46"},"PeriodicalIF":0.8000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bf/55/acc-10-01-42.PMC10088049.pdf","citationCount":"0","resultStr":"{\"title\":\"From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.\",\"authors\":\"Cristina Marques, Catarina Silva, Carina Silva, João Pedro Abreu, Márcia Ribeiro, Arlindo Guimas\",\"doi\":\"10.22551/2023.38.1001.10238\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":72274,\"journal\":{\"name\":\"Archive of clinical cases\",\"volume\":\"10 1\",\"pages\":\"42-46\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bf/55/acc-10-01-42.PMC10088049.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archive of clinical cases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22551/2023.38.1001.10238\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archive of clinical cases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22551/2023.38.1001.10238","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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 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.