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Licensed Unlicensed Requires Authentication Published by De Gruyter January 13, 2017

An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency

Engin Melek, Fatma Derya Bulut, Bahriye Atmış, Berna Şeker Yılmaz, Aysun Karabay Bayazıt and Neslihan Önenli Mungan

Abstract

Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively inherited disorder involving the β-oxidation of long-chain fatty acids, which leads to rhabdomyolysis and subsequent acute renal failure. The clinical phenotype varies from a severe infantile form to a milder muscle form. Here, we report a 9-year-old boy referred to our hospital for the investigation of hematuria with a 2-day history of dark urine and malaise. As no erythrocytes in the microscopic examination of the urine and hemoglobinuria were present, myoglobinuria due to rhabdomyolysis was the most probable cause of dark urine. After excluding the other causes of rhabdomyolysis, with the help of metabolic investigations, the patient was suspected to have CPT-II deficiency, the most common cause of metabolic rhabdomyolysis. Our aim in presenting this case is to emphasize considering rhabdomyolysis in the differential diagnosis of dark urine in order to prevent recurrent rhabdomyolysis and renal injury.


Corresponding author: Engin Melek, Assistant Professor, Faculty of Medicine, Department of Pediatric Nephrology, Cukurova University, 01330, Balcalı, Adana, Turkey, Phone: +90 322 3386084, Fax: +90 322 3386945

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

References

1. Elsayed EF, Reilly RF. Rhabdomyolysis: a review, with emphasis on the pediatric population. Pediatr Nephrol 2010;25:7–18.10.1007/s00467-009-1223-9Search in Google Scholar

2. Topçu Y, Bayram E, Karaoğlu P, Yiş U, Bayram M, et al. Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure. Pediatr Emerg Care 2014;30:343–4.10.1097/PEC.0000000000000127Search in Google Scholar

3. Joshi PR, Deschauer M, Zierz S. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype–phenotype analysis of 50 patients. J Neurol Sci 2013;338:107–11.10.1016/j.jns.2013.12.026Search in Google Scholar

4. Sauret JM, Marinides G, Wang GK. Rhabdomyolysis. Am Fam Physician 2002;65:907–12.Search in Google Scholar

5. Zager RA. Studies of mechanisms and protective maneuvers in myoglobinuric acute renal injury. Lab Invest 1989;60:619–29.Search in Google Scholar

6. Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol 2005;62:37–41.10.1001/archneur.62.1.37Search in Google Scholar

7. Yasuno T, Osafune K, Sakurai H, Asaka I, Tanaka A, et al. Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. Biochem Biophys Res Commun 2014;448:175–81.10.1016/j.bbrc.2014.04.084Search in Google Scholar

8. Deutsch M, Vassilopoulos D, Sevastos N, Papadimitriou A, Vasiliou K, et al. Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. Eur J Intern Med 2008;19:289–91.10.1016/j.ejim.2007.04.025Search in Google Scholar

9. Corti S, Bordoni A, Ronchi A, Musumeci O, Aguennouz M, et al. Clinical features and new molecular findings in carnitine palmitoyltransferase II (CPT II) deficiency. J Neurol Sci 2008;266:97–103.10.1016/j.jns.2007.09.015Search in Google Scholar

10. DiMauro S, DiMauro PM. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 1973;182:929–31.10.1126/science.182.4115.929Search in Google Scholar

11. Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, et al. Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. Am J Med Genet A 2008;146:2925–8.10.1002/ajmg.a.32545Search in Google Scholar

12. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, et al. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004;25:495–520.10.1016/j.mam.2004.06.004Search in Google Scholar

13. Cho SY, Siu TS, Ma O, Tam S, Lam CW. Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. Clin Chim Acta 2013;425:125–7.10.1016/j.cca.2013.07.018Search in Google Scholar

14. Ørngreen MC, Ejstrup R, Vissing J. Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. Neurology 2003;61:559–61.10.1212/01.WNL.0000078195.05396.20Search in Google Scholar

15. Rigante D, Bersani G, Compagnone A, Zampetti A, De Nisco A, et al. Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency. Rheumatol Int 2011;31:805–7.10.1007/s00296-009-1221-zSearch in Google Scholar

16. Better OS, Stein JH. Early management of shock and prophylaxis of acute renal failure in traumatic rhabdomyolysis. N Engl J Med 1990;322:825–9.10.1056/NEJM199003223221207Search in Google Scholar

Received: 2016-8-14
Accepted: 2016-11-17
Published Online: 2017-1-13
Published in Print: 2017-2-1

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