Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures,...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2021-12-01
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| Series: | Romanian Journal of Internal Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/rjim-2021-0021 |
| _version_ | 1828787097553600512 |
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| author | Mccormick Benjamin J. Chirila Razvan M. |
| author_facet | Mccormick Benjamin J. Chirila Razvan M. |
| author_sort | Mccormick Benjamin J. |
| collection | DOAJ |
| description | Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures, many patients will continue to experience periodic symptoms, including rhabdomyolysis. Avoidance of renal failure, correction of electrolyte disturbances and halting further muscle breakdown are the goals of treatment. It is essential for clinicians to recognize the signs and symptoms of acute disease in CPT-II deficiency. We present a case of recurrent rhabdomyolysis requiring hospitalization in a patient with CPT-II deficiency and review the literature for common clinical manifestations, diagnostics, and treatment strategies. |
| first_indexed | 2024-12-12T00:25:12Z |
| format | Article |
| id | doaj.art-54e9a29cbb3a4ba9b08e85c602d0b9b7 |
| institution | Directory Open Access Journal |
| issn | 2501-062X |
| language | English |
| last_indexed | 2024-12-12T00:25:12Z |
| publishDate | 2021-12-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Romanian Journal of Internal Medicine |
| spelling | doaj.art-54e9a29cbb3a4ba9b08e85c602d0b9b72022-12-22T00:44:39ZengSciendoRomanian Journal of Internal Medicine2501-062X2021-12-0159442042410.2478/rjim-2021-0021Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literatureMccormick Benjamin J.0Chirila Razvan M.1Department of Internal Medicine, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL 32224Department of Internal Medicine, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL 32224Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures, many patients will continue to experience periodic symptoms, including rhabdomyolysis. Avoidance of renal failure, correction of electrolyte disturbances and halting further muscle breakdown are the goals of treatment. It is essential for clinicians to recognize the signs and symptoms of acute disease in CPT-II deficiency. We present a case of recurrent rhabdomyolysis requiring hospitalization in a patient with CPT-II deficiency and review the literature for common clinical manifestations, diagnostics, and treatment strategies.https://doi.org/10.2478/rjim-2021-0021carnitine palmitoyltransferase-ii deficiencyrhabdomyolysismyopathy |
| spellingShingle | Mccormick Benjamin J. Chirila Razvan M. Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature Romanian Journal of Internal Medicine carnitine palmitoyltransferase-ii deficiency rhabdomyolysis myopathy |
| title | Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature |
| title_full | Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature |
| title_fullStr | Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature |
| title_full_unstemmed | Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature |
| title_short | Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature |
| title_sort | carnitine palmitoyltransferase ii deficiency case presentation and review of the literature |
| topic | carnitine palmitoyltransferase-ii deficiency rhabdomyolysis myopathy |
| url | https://doi.org/10.2478/rjim-2021-0021 |
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