{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:32:18Z","timestamp":1790299938649,"version":"4.1.0"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"4","license":[{"start":{"date-parts":[[2021,11,20]],"date-time":"2021-11-20T00:00:00Z","timestamp":1637366400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>","DOI":"10.2478\/rjim-2021-0021","type":"journal-article","created":{"date-parts":[[2021,6,12]],"date-time":"2021-06-12T19:51:06Z","timestamp":1623527466000},"page":"420-424","source":"Crossref","is-referenced-by-count":5,"title":["Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature"],"prefix":"10.2478","volume":"59","author":[{"given":"Benjamin J.","family":"Mccormick","sequence":"first","affiliation":[{"name":"Department of Internal Medicine , Mayo Clinic , 4500 San Pablo Rd S, Jacksonville, FL 32224"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razvan M.","family":"Chirila","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine , Mayo Clinic , 4500 San Pablo Rd S, Jacksonville, FL 32224"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,11,20]]},"reference":[{"key":"2026042914165002622_j_rjim-2021-0021_ref_001","doi-asserted-by":"crossref","unstructured":"1. JOSHI PR, ZIERZ S. Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach. Molecules.2020;25(8).10.3390\/molecules25081784","DOI":"10.3390\/molecules25081784"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_002","doi-asserted-by":"crossref","unstructured":"2. WEIBRECHT K, DAYNO M, DARLING C, BIRD SB. Liver aminotransferases are elevated with rhabdomyolysis in the absence of significant liver injury. J Med Toxicol. 2010;6(3):294\u2013300.10.1007\/s13181-010-0075-9","DOI":"10.1007\/s13181-010-0075-9"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_003","doi-asserted-by":"crossref","unstructured":"3. RAY L, NANDA SK, CHATTERJEE A, SARANGI R, GAGULY S. A comparative study of serum aminotransferases in chronic kidney disease with and without end-stage renal disease: Need for new reference ranges. Int J Appl Basic Med Res. 2015;5(1):31\u20135.10.4103\/2229-516X.149232","DOI":"10.4103\/2229-516X.149232"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_004","doi-asserted-by":"crossref","unstructured":"4. BOSCH X, POCH E, GRAU JM. Rhabdomyolysis and acute kidney injury. N Engl J Med. 2009;361(1):62\u201372.10.1056\/NEJMra0801327","DOI":"10.1056\/NEJMra0801327"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_005","doi-asserted-by":"crossref","unstructured":"5. WIESER T, DESCHAUER M, OLEK K, HERMANN T, ZIERZ S. Carnitine palmitoyltransferase II deficiency. Molecular and biochemical analysis of 32 patients. Neurology. 2003;60(8):1351-1353.10.1212\/01.WNL.0000055901.58642.48","DOI":"10.1212\/01.WNL.0000055901.58642.48"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_006","doi-asserted-by":"crossref","unstructured":"6. NANCE JR, MAMMEN AL. Diagnostic evaluation of rhabdomyolysis. Muscle Nerve. 2015;51(6):793\u2013810.10.1002\/mus.24606","DOI":"10.1002\/mus.24606"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_007","doi-asserted-by":"crossref","unstructured":"7. JOSHI PR, DESCHAUER M, ZIERZ S. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. J Neurol Sci. 2014;338(1-2): 107\u201311.10.1016\/j.jns.2013.12.026","DOI":"10.1016\/j.jns.2013.12.026"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_008","doi-asserted-by":"crossref","unstructured":"8. MANSPEAKER S, HENDERSON K, RIDDLE D. Treatment of exertional rhabdomyolysis in athletes: a systematic review. JBI Database System Rev Implement Rep. 2016;14(6):117\u201347.10.11124\/JBISRIR-2016-001879","DOI":"10.11124\/JBISRIR-2016-001879"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_009","doi-asserted-by":"crossref","unstructured":"9. SOMAGUTTA MR, PAGAD S, SRIDHARAN P, NANTHAKUMARAN S, ARNOLD AA, MAY V et al., Role of Bicarbonates and Mannitol in Rhabdomyolysis: A Comprehensive Review. Cureus. 2020;12(8):e9742-e9742.10.7759\/cureus.9742","DOI":"10.7759\/cureus.9742"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_010","doi-asserted-by":"crossref","unstructured":"10. ANTOON JW, CHAKRABORTI C. Corticosteroids in the treatment of alcohol-induced rhabdomyolysis. Mayo Clin Proc. 2011. 86(10):1005\u20137.10.4065\/mcp.2011.0102","DOI":"10.4065\/mcp.2011.0102"},{"key":"2026042914165002622_j_rjim-2021-0021_ref_011","doi-asserted-by":"crossref","unstructured":"11. SUMMERLIN ML, REGIER DS, FRASER JL, CHAPMAN KA, KAFASHZADEH D, BILLINGTON C et al., Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. Am J Med Genet A. 2021;185(2):500\u2013507.10.1002\/ajmg.a.62000","DOI":"10.1002\/ajmg.a.62000"}],"container-title":["Romanian Journal of Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/rjim-2021-0021","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:27:42Z","timestamp":1777487262000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/rjim-2021-0021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,20]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,11,20]]},"published-print":{"date-parts":[[2021,12,1]]}},"alternative-id":["10.2478\/rjim-2021-0021"],"URL":"https:\/\/doi.org\/10.2478\/rjim-2021-0021","relation":{},"ISSN":["2501-062X"],"issn-type":[{"value":"2501-062X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,20]]}}}