Cases: Recurrent exercise-induced rhabdomyolysis

CMAJ. Canadian Medical Association Journal

Volumn 184, Issue 4, 2012, Pages 426-430

  Hannah Shmouni, Fady ^a   McLeod, Kevin ^a   Sirrs, Sandra ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; CREATINE KINASE; CREATININE; MYOGLOBIN;

3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; ABNORMAL URINE COMPOSITION; ADULT; ALCOHOL CONSUMPTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COLD EXPOSURE; CREATINE KINASE BLOOD LEVEL; CREATININE BLOOD LEVEL; ENZYME DEFICIENCY; EXERCISE INDUCED RHABDOMYOLYSIS; EXERCISE INTENSITY; FATTY ACID OXIDATION; FLUID THERAPY; HETEROZYGOTE; HUMAN; KIDNEY FAILURE; LABORATORY TEST; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; MYALGIA; MYOGLOBINURIA; PERIPHERAL NEUROPATHY; PHYSICAL EXAMINATION; RECURRENT DISEASE; REST; RHABDOMYOLYSIS; RISK FACTOR; SLEEP DEPRIVATION; SPORT; TRAINING; URINALYSIS; VIBRATION SENSE; BIOPSY; DIFFERENTIAL DIAGNOSIS; EXERCISE; FOLLOW UP; METABOLISM; PATHOLOGY; SKELETAL MUSCLE;

ADULT; BIOPSY; CREATINE KINASE; DIAGNOSIS, DIFFERENTIAL; EXERCISE; FOLLOW-UP STUDIES; HOCKEY; HUMANS; MALE; MUSCLE, SKELETAL; MYOGLOBIN; RECURRENCE; RHABDOMYOLYSIS;

EID: 84857870703     PISSN: 08203946     EISSN: 14882329     Source Type: Journal    
DOI: 10.1503/cmaj.110518     Document Type: Article

References (18)

1. Graves EJ, Gillum BS. Detailed diagnoses and procedures, National Hospital Discharge Survey, 1995. Vital Health Stat 13 1997; 13:1-146.
2. Sauret O, Marinides G, Wang G. Rhabdomyolysis. American Fam Physician 2002;65:907-12. (Pubitemid 34212524)
3. Bosch X, Poch E, Grau JM. Rhabdomyolysis and acute kidney injury. N Engl J Med 2009;361:62-72.
4. Sinert R, Kohl L, Rainone T, et al. Exercise-induced rhabdomyolysis. Ann Emerg Med 1994;23:1301-6. (Pubitemid 24161812)
5. Fernandez WG, Hung O, Bruno GR, et al. Factors predictive of acute renal failure and need for hemodialysis among ED patients with rhabdomyolysis. Am J Emerg Med 2005;23:1-7.
6. Finnish Medical Society Duodecim. Rhabdomyolysis. In: Evidence- based medicine guidelines. Helsinki (Finland): Wiley Interscience, John Wiley & Sons; 2007.
7. Miller ED Jr, Sander DB, Rowlingson JC, et al. Anesthesia-induced rhabdomyolysis in a patient with Duchenne's muscular dystrophy. Anesthesiology 1978;48:146-8. (Pubitemid 8277993)
8. Saudubray J-M, Charpentier C. Chapter 66: clinical phenotypes: diagnosis/algorithms. The online metabolic and molecular bases of inherited disease. Columbus (OH): The McGraw-Hill Companies. Available: www.ommbid .com/OMMBID/the online metabolic-and molecular bases-of-inherited disease/b /abstract /Part6/ch66 (accessed 2011 Dec. 15).
9. Acyl-CoA dehydrogenase, medium-chain; ACADM. Online Mendelian inheritance in man. Baltimore (MD): Johns Hopkins University. Available: http://omim.org /entry /607008 (accessed 2011 Dec. 15).
10. Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis 2010; 33: 527-32.
11. Derks TG, Duran M, Waterham HR, et al. The difference between observed and expected prevalence of MCAD deficiency in the Netherlands: a genetic epidemiological study. Eur J Hum Genet 2005;13:947-52. (Pubitemid 41131742)
12. Lang TF. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis 2009; 32: 675-83.
13. Sinclair G, Ma J, MacLeod P, et al. Retrospective genotyping of newborn screening cards for the P479L carnitine palmitoyltransferase (CPT1) variant: correlation with acylcarnitine profiles and estimation of incidence in British Columbia [abstract]. Mol Genet Metab 2007;90:262.
14. Greenberg CR, Dilling LA, Thomposon GR, et al. The paradox of the CPT1a P479L variant in Canadian Aboriginal populations. Mol Genet Metab 2009;96:201-7.
15. Gessner BD, Gillingham MB, Birch S, et al. Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. Pediatrics 2010;126:945-51.
16. Spiekerkoetter U, Linder M, Santer R, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis 2009; 32: 488-97.
17. Winter SC. Treatment of carnitine deficiency. J Inherit Metab Dis 2003;26:171-80. (Pubitemid 36889740)
18. Bonnefont JP, Bastin J, Behin A. Bezafibrate for an inborn mitochondrial beta oxidation defect. N Engl J Med 2009;360:838-40.