Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury
Keywords:Carnitine palmitoyltransferase II deficiency, Rhabdomyolysis, Metabolic disorder, Creatine kinase, Myoglobin, Acute kidney injury, Hemodialysis
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common â€œclassicâ€ myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness.
CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured). The symptoms appeared after viral infection followed by fever. Acute kidney injury (AKI) developed as a complication, and there was a need for treatment with hemodialysis. At the clinical presentation, the patient had plasma creatine kinase (pCK) level of 130.383 U/L and plasma myoglobin level over 5000 Âµg/L. Genetic testing (molecular analysis) confirmed the diagnosis of inherited rhabdomyolysis, a metabolic disorder of carnitine palmitoyltransferase II deficiency. A previous episode with the same symptoms, the patient had four years ago but did not ask for medical treatment. The patient was discontinued from hemodialysis because of the resolution of acute kidney injury. The patient was discharged from the hospital in good condition, with a recommendation about his future lifestyle in order to prevent similar episodes.CONCLUSION: Every patient presenting with myalgia, dark urine (brown-coloured), high level of pCK and development of AKI requiring hemodialysis, should be explored for inherited rhabdomyolysis induced by CPT II deficiency.
Plum Analytics Artifact Widget Block
Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: A clinical, biochemical, and molecular review. Lab Invest. 2000; 383:1543â€“1554.
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Laure Thuillier L. Carnitine Palmitoyltransferase Deficience. Mol Genet Metab. 1999; 68(4):424-40. https://doi.org/10.1006/mgme.1999.2938 PMid:10607472
Giannoglou GD, Chatzizisis YS, Misirli G. The syndrome of rhabdomyolysis: Pathophysiology and diagnosis. Eur J Intern Med.2007; 18:90. https://doi.org/10.1016/j.ejim.2006.09.020 PMid:17338959
Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MJ. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. J Pediatr. 2002; 141:734â€“6. https://doi.org/10.1067/mpd.2002.128545 PMid:12410208
Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C, Angelini C. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. Neurol Res. 2011; 33(1):24-32. https://doi.org/10.1179/016164110X12767786356390 PMid:20810031
Orngreen MC, Duno M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. Fuel utilisation in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann Neurol. 2005; 57(1):60â€“6. https://doi.org/10.1002/ana.20320 PMid:15622536
DiMauro S, DiMauro PMM. Muscle carnitine palmityl transferase deficiency and myoglobinuria. Science. 1973; 182: 929-931, https://doi.org/10.1126/science.182.4115.929 PMid:4745596
Valvukis M, Eftimov A, Zafirovska P, Caparovska E, Pocesta B, Kedev S, Dimovski AJ. Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency. Case Reports genetics. 2014; Article ID 496410.
Deschauer M, Wieser T, Zierz S. Muscle Carnitine Palmitoyltransferase II DeficiencyClinical and Molecular Genetic Features and Diagnostic. Arch Neurol. 2005; 62(1):37-41. https://doi.org/10.1001/archneur.62.1.37 PMid:15642848
Tonin P, Lewis P, Servidei S, DiMauro S. Metabolic causes of myoglobinuria. Ann Neurol. 1990; 27:181. https://doi.org/10.1002/ana.410270214 PMid:2156480
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. The Investigation & Treatment of Metabolic Myopathies. J Clin Pathol. 2015; 68(6):410-7. https://doi.org/10.1136/jclinpath-2014-202808 PMid:25878327
Lamhonwah AM, Olpin SE, Pollitt RJ, et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy," 2002 American Journal of Medical Genetics. 2002; 111(3):271â€“284. https://doi.org/10.1002/ajmg.10585 PMid:12210323
Roe Ch, Sweetman L, Roe D, David F, Brunengraber H. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest. 2002; 110(2):259-269. https://doi.org/10.1172/JCI0215311
How to Cite
All rights reserved.