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Acute rhabdomyolysis and inflammation

  • SSIEM 2014
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Rhabdomyolysis results from the rapid breakdown of skeletal muscle fibers, which leads to leakage of potentially toxic cellular content into the systemic circulation. Acquired causes by direct injury to the sarcolemma are most frequent. The inherited causes are: i) metabolic with failure of energy production, including mitochondrial fatty acid ß-oxidation defects, LPIN1 mutations, inborn errors of glycogenolysis and glycolysis, more rarely mitochondrial respiratory chain deficiency, purine defects and peroxysomal α-methyl-acyl-CoA-racemase defect (AMACR), ii) structural causes with muscle dystrophies and myopathies, iii) calcium pump disorder with RYR1 gene mutations, iv) inflammatory causes with myositis. Irrespective of the cause of rhabdomyolysis, the pathology follows a common pathway, either by the direct injury to sarcolemma by increased intracellular calcium concentration (acquired causes) or by the failure of energy production (inherited causes), which leads to fiber necrosis. Rhabdomyolysis are frequently precipitated by febrile illness or exercise. These conditions are associated with two events, elevated temperature and high circulating levels of pro-inflammatory mediators such as cytokines and chemokines. To illustrate these points in the context of energy metabolism, protein thermolability and the potential benefits of arginine therapy, we focus on a rare cause of rhabdomyolysis, aldolase A deficiency. In addition, our studies on lipin-1 (LPIN1) deficiency raise the possibility that several diseases involved in rhabdomyolysis implicate pro-inflammatory cytokines and may even represent primarily pro-inflammatory diseases. Thus, not only thermolability of mutant proteins critical for muscle function, but also pro-inflammatory cytokines per se, may lead to metabolic decompensation and rhabdomyolysis.

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References

  • Accioly MT, Pacheco P, Maya-Monteiro CM et al (2008) Lipid bodies are reservoirs of cyclooxygenase-2 and sites of prostaglandin-E2 synthesis in colon cancer cells. Cancer Res 68(6):1732–1740

    Article  CAS  PubMed  Google Scholar 

  • Alvarez-Guardia D, Palomer X, Coll T et al (2010) The p65 subunit of NF-kappaB binds to PGC-1alpha, linking inflammation and metabolic disturbances in cardiac cells. Cardiovasc Res 87(3):449–458

    Article  CAS  PubMed  Google Scholar 

  • Berardo AS, DiMauro D, Hirano M (2010) A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 10(2):118–126

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Bergounioux J, Brassier A, Rambaud C et al (2012) Fatal rhabdomyolysis in 2 children with LPIN1 mutations. J Pediatr 160(6):1052–1054

    Article  CAS  PubMed  Google Scholar 

  • Beutler E, Scott S, Bishop A et al (1973) Red cell aldolase deficiency and hemolytic anemia: a new syndrome. Trans Assoc Am Phys 86:154–166

    CAS  PubMed  Google Scholar 

  • Brealey D, Brand M, Hargreaves I et al (2002) Association between mitochondrial dysfunction and severity and outcome of septic shock. Lancet 360(9328):219–223

    Article  CAS  PubMed  Google Scholar 

  • Brochu ME, Girard S, Lavoie K et al (2011) Developmental regulation of the neuroinflammatory responses to LPS and/or hypoxia-ischemia between preterm and term neonates: an experimental study. J Neuroinflammation 8:55

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Calvano SE, Xiao W, Richards DR et al (2005) A network-based analysis of systemic inflammation in humans. Nature 437(7061):1032–1037

    Article  CAS  PubMed  Google Scholar 

  • Cervellin G, Comelli I, Lippi G (2010) Rhabdomyolysis: historical background, clinical, diagnostic and therapeutic features. Clin Chem Lab Med 48(6):749–756

    Article  CAS  PubMed  Google Scholar 

  • Chao CC, Hu S (1994) Tumor necrosis factor-alpha potentiates glutamate neurotoxicity in human fetal brain cell cultures. Dev Neurosci 16(3–4):172–179

    Article  CAS  PubMed  Google Scholar 

  • Chen X, Xun K, Chen L, Wang Y (2009) TNF-alpha, a potent lipid metabolism regulator. Cell Biochem Funct 27(7):407–416

    Article  CAS  PubMed  Google Scholar 

  • Crouser ED, Julian MW, Blaho DV et al (2002) Endotoxin-induced mitochondrial damage correlates with impaired respiratory activity. Crit Care Med 30(2):276–284

    Article  CAS  PubMed  Google Scholar 

  • Darras BT, Friedman NR (2000) Metabolic myopathies: a clinical approach; part II. Pediatr Neurol 22(3):171–181

    Article  CAS  PubMed  Google Scholar 

  • Devlin CM, Kuriakose G, Hirsch E et al (2002) Genetic alterations of IL-1 receptor antagonist in mice affect plasma cholesterol level and foam cell lesion size. Proc Natl Acad Sci U S A 99(9):6280–6285

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • DiMauro S, Garone C, Naini A (2010) Metabolic myopathies. Curr Rheumatol Rep 12(5):386–393

    Article  CAS  PubMed  Google Scholar 

  • Donath MY (2014) Targeting inflammation in the treatment of type 2 diabetes: time to start. Nat Rev Drug Discov 13(6):465–476

    Article  CAS  PubMed  Google Scholar 

  • Donkor J, Sariahmetoglu M, Dewald J et al (2007) Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns. J Biol Chem 282(6):3450–3457

    Article  CAS  PubMed  Google Scholar 

  • East C, Bilheimer DW, Grundy SM (1988) Combination drug therapy for familial combined hyperlipidemia. Ann Intern Med 109(1):25–32

    Article  CAS  PubMed  Google Scholar 

  • El Sabbagh S, Lebre AS, Bahi-Buisson N et al (2010) Epileptic phenotypes in children with respiratory chain disorders. Epilepsia 51(7):1225–1235

    Article  PubMed  Google Scholar 

  • Esser N, Legrand-Poels S, Piette J et al (2014) Inflammation as a link between obesity, metabolic syndrome and type 2 diabetes. Diabetes Res Clin Pract 105(2):141–150

    Article  CAS  PubMed  Google Scholar 

  • Febbraio MA (2014) Role of interleukins in obesity: implications for metabolic disease. Trends Endocrinol Metab 25(6):312–319

    Article  CAS  PubMed  Google Scholar 

  • Feingold KR, Grunfeld C (1987) Tumor necrosis factor-alpha stimulates hepatic lipogenesis in the rat in vivo. J Clin Invest 80(1):184–190

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Feingold KR, Wang Y, Moser A et al (2008) LPS decreases fatty acid oxidation and nuclear hormone receptors in the kidney. J Lipid Res 49(10):2179–2187

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Feingold KR, Moser A, Patzek SM et al (2009) Infection decreases fatty acid oxidation and nuclear hormone receptors in the diaphragm. J Lipid Res 50(10):2055–2063

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Feingold KR, Shigenaga JK, Patzek SM et al (2011) Endotoxin, zymosan, and cytokines decrease the expression of the transcription factor, carbohydrate response element binding protein, and its target genes. Innate Immun 17(2):174–182

    Article  CAS  PubMed  Google Scholar 

  • Ferguson PJ, Sandu M (2012) Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. Curr Rheumatol Rep 14(2):130–141

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Finck BN, Gropler MC, Chen Z et al (2006) Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway. Cell Metab 4(3):199–210

    Article  CAS  PubMed  Google Scholar 

  • Flores EA, Bistrian BR, Pomposelli JJ et al (1989) Infusion of tumor necrosis factor/cachectin promotes muscle catabolism in the rat. A synergistic effect with interleukin 1. J Clin Invest 83(5):1614–1622

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Frisard MI, McMillan RP, Marchand J et al (2010) Toll-like receptor 4 modulates skeletal muscle substrate metabolism. Am J Physiol Endocrinol Metab 298(5):E988–E998

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Gataullina S, Dellatolas G, Perdry H et al (2012) Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia. Dev Med Child Neurol 54(11):1012–1017

    Article  PubMed  Google Scholar 

  • Grunfeld C, Adi S, Soued M et al (1990) Search for mediators of the lipogenic effects of tumor necrosis factor: potential role for interleukin 6. Cancer Res 50(14):4233–4238

    CAS  PubMed  Google Scholar 

  • Gu H, Yang M, Zhao X et al (2014) Pretreatment with hydrogen-rich saline reduces the damage caused by glycerol-induced rhabdomyolysis and acute kidney injury in rats. J Surg Res 188(1):243–249

    Article  CAS  PubMed  Google Scholar 

  • Han GS, Wu WI, Carman GM (2006) The Saccharomyces cerevisiae Lipin homolog is a Mg2 + −dependent phosphatidate phosphatase enzyme. J Biol Chem 281(14):9210–9218

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Herlin T, Fiirgaard B, Bjerre M et al (2012) Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis 72(3):410–413

    Article  PubMed Central  PubMed  Google Scholar 

  • Hotamisligil GS, Shargill NS, Spiegelman BM (1993) Adipose expression of tumor necrosis factor-alpha: direct role in obesity-linked insulin resistance. Science 259(5091):87–91

    Article  CAS  PubMed  Google Scholar 

  • Janeway CA, Medzhitov R (2002) Innate immune recognition. Annu Rev Immunol 20:197–216

    Article  CAS  PubMed  Google Scholar 

  • Kanda H, Tateya S, Tamori Y et al (2006) MCP-1 contributes to macrophage infiltration into adipose tissue, insulin resistance, and hepatic steatosis in obesity. J Clin Invest 116(6):1494–1505

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Kapina V, Sedel F, Truffert A et al (2010) Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. Neurology 75(14):1300–1302

    Article  CAS  PubMed  Google Scholar 

  • Kim HB, Kumar A, Wang L et al (2010) Lipin 1 represses NFATc4 transcriptional activity in adipocytes to inhibit secretion of inflammatory factors. Mol Cell Biol 30(12):3126–3139

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Kishi H, Mukai T, Hirono A et al (1987) Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Natl Acad Sci U S A 84(23):8623–8627

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Kolker S, Koeller DM, Okun JG et al (2004) Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 55(1):7–12

    Article  PubMed  Google Scholar 

  • Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B et al (1996) Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med 334(17):1100–1104

    Article  CAS  PubMed  Google Scholar 

  • Kuijk LM, Beekman JM, Koster J et al (2008) HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 112(9):3563–3573

    Article  CAS  PubMed  Google Scholar 

  • Laforet P, Vianey-Saban C (2010) Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord 20(11):693–700

    Article  PubMed  Google Scholar 

  • Lamp J, Keyser B, Koeller DM et al (2011) Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells. J Biol Chem 286(20):17777–17784

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Lindegaard B, Matthews VB, Brandt C et al (2013) Interleukin-18 activates skeletal muscle AMPK and reduces weight gain and insulin resistance in mice. Diabetes 62(9):3064–3074

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Linden AM, Sandu C, Aller MI et al (2007) TASK-3 knockout mice exhibit exaggerated nocturnal activity, impairments in cognitive functions, and reduced sensitivity to inhalation anesthetics. J Pharmacol Exp Ther 323(3):924–934

    Article  CAS  PubMed  Google Scholar 

  • Lu B, Lu Y, Moser AH et al (2008) LPS and proinflammatory cytokines decrease lipin-1 in mouse adipose tissue and 3 T3-L1 adipocytes. Am J Physiol Endocrinol Metab 295(6):E1502–E1509

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Luck RP, Verbin S (2008) Rhabdomyolysis: a review of clinical presentation, etiology, diagnosis, and management. Pediatr Emerg Care 24(4):262–268

    Article  PubMed  Google Scholar 

  • Majeed HA, Al-Tarawna M, El-Shanti H et al (2001) The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr 160(2):705–710

    Article  CAS  PubMed  Google Scholar 

  • Mamoune A, Bahuau M, Hamel Y et al (2014) A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia. PLoS Genet 10(11):e1004711

    Article  PubMed Central  PubMed  Google Scholar 

  • Mathis D, Shoelson SE (2011) Immunometabolism: an emerging frontier. Nat Rev Immunol 11(2):81

    Article  CAS  PubMed  Google Scholar 

  • Meana C, Pena L, Lorden G et al (2014) Lipin-1 integrates lipid synthesis with proinflammatory responses during TLR activation in macrophages. J Immunol 193(9):4614–4622

    Article  CAS  PubMed  Google Scholar 

  • Michot C, Hubert L, Brivet M et al (2010) LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat 31(7):E1564–E1573

    Article  CAS  PubMed  Google Scholar 

  • Michot C, Hubert L, Romero NB et al (2012) Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis 35(6):1119–1128

    Article  CAS  PubMed  Google Scholar 

  • Michot C, Mamoune A, Vamecq J et al (2013) Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts. Biochim Biophys Acta 1832(12):2103–2114

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Miwa S, Fujii H, Tani K, Takahashi K et al (1981) Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. Am J Hematol 11(4):425–437

    Article  CAS  PubMed  Google Scholar 

  • Molenaar JP, Voermans NC, van Hoeve BJ et al (2014) Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. Intern Med J 44(8):819–820

    Article  CAS  PubMed  Google Scholar 

  • Navratil AR, Brummett AM, Bryan JD et al (2014) Francisella tularensis LVS induction of prostaglandin biosynthesis by infected macrophages requires specific host phospholipases and lipid phosphatases. Infect Immun 82(8):3299–3311

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Ohashi K, Shibata R, Murohara T et al (2014) Role of anti-inflammatory adipokines in obesity-related diseases. Trends Endocrinol Metab 25(7):348–355

    Article  CAS  PubMed  Google Scholar 

  • Ostrowski K, Rohde T, Asp S, Schjerling P et al (2001) Chemokines are elevated in plasma after strenuous exercise in humans. Eur J Appl Physiol 84(3):244–245

    Article  CAS  PubMed  Google Scholar 

  • Padfield KE, Astrakas LG, Zhang Q et al (2005) Burn injury causes mitochondrial dysfunction in skeletal muscle. Proc Natl Acad Sci U S A 102(15):5368–5373

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Pailla K, El-Mir MY, Cynober L et al (2001) Cytokine-mediated inhibition of ketogenesis is unrelated to nitric oxide or protein synthesis. Clin Nutr 20(4):313–317

    Article  CAS  PubMed  Google Scholar 

  • Palomer X, Alvarez-Guardia D, Rodriguez-Calvo R et al (2009) TNF-alpha reduces PGC-1alpha expression through NF-kappaB and p38 MAPK leading to increased glucose oxidation in a human cardiac cell model. Cardiovasc Res 81(4):703–712

    Article  CAS  PubMed  Google Scholar 

  • Peterson TR, Sengupta SS, Harris TE et al (2011) mTOR complex 1 regulates lipin 1 localization to control the SREBP pathway. Cell 146(3):408–420

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Quinlivan R, Jungbluth H (2012) Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol 54(10):886–891

    Article  PubMed  Google Scholar 

  • Rosenberg H, Davis M, James D et al (2007) Malignant hyperthermia. Orphanet J Rare Dis 2:21

    Article  PubMed Central  PubMed  Google Scholar 

  • Salles J, Tardif N, LandrierCombaret JF et al (2012) TNFalpha gene knockout differentially affects lipid deposition in liver and skeletal muscle of high-fat-diet mice. J Nutr Biochem 23(12):1685–1693

    Article  CAS  PubMed  Google Scholar 

  • Sauer SW, Okun JG, Schwab MA et al (2005) Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem 280(23):21830–21836

    Article  CAS  PubMed  Google Scholar 

  • Sauret JM, Marinides G, Wang GK (2002) Rhabdomyolysis. Am Fam Physician 65(5):907–912

    PubMed  Google Scholar 

  • Shapiro ML, Baldea A, Luchette FA (2012) Rhabdomyolysis in the intensive care unit. J Intensive Care Med 27(6):335–342

    Article  PubMed  Google Scholar 

  • Spate U, Schulze PC (2004) Proinflammatory cytokines and skeletal muscle. Curr Opin Clin Nutr Metab Care 7(3):265–269

    Article  PubMed  Google Scholar 

  • Sugden MC, Caton PW, Holness MJ (2010) PPAR control: it's SIRTainly as easy as PGC. J Endocrinol 204(2):93–104

    Article  CAS  PubMed  Google Scholar 

  • Tein I, DiMauro S, DeVivo DC (1990) Recurrent childhood myoglobinuria. Adv Pediatr 37:77–117

    CAS  PubMed  Google Scholar 

  • Tonin P, Lewis P, Servidei S et al (1990) Metabolic causes of myoglobinuria. Ann Neurol 27(2):181–185

    Article  CAS  PubMed  Google Scholar 

  • Tsuchiya Y, Takahashi N, Yoshizaki T et al (2009) A Jak2 inhibitor, AG490, reverses lipin-1 suppression by TNF-alpha in 3 T3-L1 adipocytes. Biochem Biophys Res Commun 382(2):348–352

    Article  CAS  PubMed  Google Scholar 

  • Valdearcos M, Esquinas E, Meana C et al (2011) Subcellular localization and role of lipin-1 in human macrophages. J Immunol 186(10):6004–6013

    Article  CAS  PubMed  Google Scholar 

  • Valdearcos M, Esquinas E, Meana C et al (2012) Lipin-2 reduces proinflammatory signaling induced by saturated Fatty acids in macrophages. J Biol Chem 287(14):10894–10904

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Vallerie SN, Hotamisligil GS (2010) The role of JNK proteins in metabolism. Sci Transl Med 2(60):60rv65

    Article  Google Scholar 

  • van Adel BA, Tarnopolsky MA (2009) Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 10(3):97–121

    Article  PubMed  Google Scholar 

  • Victor VM, Espulgues JV, Hernandez-Mijares A et al (2009) Oxidative stress and mitochondrial dysfunction in sepsis: a potential therapy with mitochondria-targeted antioxidants. Infect Disord Drug Targets 9(4):376–389

    Article  CAS  PubMed  Google Scholar 

  • Wang X, Rousset CI, Hagberg H et al (2006) Lipopolysaccharide-induced inflammation and perinatal brain injury. Semin Fetal Neonatal Med 11(5):343–353

    Article  PubMed  Google Scholar 

  • Wang X, Chrysovergis K, Kosak J et al (2014) Lower NLRP3 inflammasome activity in NAG-1 transgenic mice is linked to a resistance to obesity and increased insulin sensitivity. Obesity 22(5):1256–1263

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Weisberg SP, McCann D, Desai M et al (2003) Obesity is associated with macrophage accumulation in adipose tissue. J Clin Invest 112(12):1796–1808

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Xu H, Barnes GT, Yang Q et al (2003) Chronic inflammation in fat plays a crucial role in the development of obesity-related insulin resistance. J Clin Invest 112(12):1821–1830

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Yang Y, Ju D, Zhang M et al (2008) Interleukin-6 stimulates lipolysis in porcine adipocytes. Endocrine 33(3):261–269

    Article  CAS  PubMed  Google Scholar 

  • Yao DC, Tolan DR, Murray MF et al (2004) Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood 103(6):2401–2403

    Article  CAS  PubMed  Google Scholar 

  • Zeharia A, Shaag A, Houtkooper RH et al (2008) Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet 83(4):489–494

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Zutt R, van der Kooi AJ et al (2014) Rhabdomyolysis: review of the literature. Neuromuscul Disord 24(8):651–659

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

We thank Dr. Asma Smahi, Dr. JL Cazanova, Dr Boisson, Dr. Patrick Nitschke, for helpful insights and support, and Marine Madrange, Mariane de Montalembert, Laurence Hubert for excellent technical help.

Funding

PDL received support from Association Française contre les Myopathies [grant numbers 13988, 15947], Fondation Bettencourt, Fondation Lejeune [grant 2014], ANR-13-BSV1-0020, Association Noa-Luu, Association hyperinsulinisme and association Nosangesduring the conduct of this study.

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For studies with human subjects include the following: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. The ethic committees of the Necker hospital approved the research proposal and inform consent were obtained from the sibling parents being included in the study.

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Authors and Affiliations

  1. Institut Imagine, Institut National de la Santé et de la Recherche Médicale, Unité 1163, 75015, Paris, France

    Yamina Hamel, Asmaa Mamoune, Laetitia Lallement & Pascale de Lonlay

  2. Université Paris Descartes, Sorbonne Paris Cité, Faculté de médecine Paris Descartes, 75015, Paris, France

    Yamina Hamel, Asmaa Mamoune, François-Xavier Mauvais, Florence Habarou, Laetitia Lallement, Chris Ottolenghi & Pascale de Lonlay

  3. Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, 75015, Paris, France

    Yamina Hamel, Asmaa Mamoune, Florence Habarou, Laetitia Lallement, Chris Ottolenghi & Pascale de Lonlay

  4. Institut National de la Santé et de la Recherché Médicale, Unité 1151 et Centre National de la Recherche Scientifique, Unité 8253, 75015, Paris, France

    François-Xavier Mauvais

  5. Service de Biochimie spécialisée, département de Biologie, 75015, Paris, France

    Florence Habarou & Chris Ottolenghi

  6. Université Pierre et Marie Curie, UM 76, INSERM U974, CNRS UMR 7215, Institut de Myologie, GHU Pitié-Salpétrière, AP-HP, Centre de Référence des Maladies Neuromusculaires, Paris, France

    Norma Beatriz Romero

  7. Institut Imagine, INSERM 1163, Paris Descartes University and Reference Center of Metabolic Diseases, Necker Hospital, 149 rue de Sèvres, 75015, Paris, France

    Pascale de Lonlay

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  1. Yamina Hamel
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  2. Asmaa Mamoune
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  3. François-Xavier Mauvais
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  4. Florence Habarou
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  5. Laetitia Lallement
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  6. Norma Beatriz Romero
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  7. Chris Ottolenghi
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  8. Pascale de Lonlay
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Correspondence to Pascale de Lonlay.

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Communicated by: Verena Peters

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Hamel, Y., Mamoune, A., Mauvais, FX. et al. Acute rhabdomyolysis and inflammation. J Inherit Metab Dis 38, 621–628 (2015). https://doi.org/10.1007/s10545-015-9827-7

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