Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur...
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| Published in | Internal Medicine Vol. 59; no. 21; pp. 2729 - 2732 |
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| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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Japan
The Japanese Society of Internal Medicine
01.11.2020
Japan Science and Technology Agency |
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| ISSN | 0918-2918 1349-7235 1349-7235 |
| DOI | 10.2169/internalmedicine.4604-20 |
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| Abstract | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T). |
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| AbstractList | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T). Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL , which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T). Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T). |
| Author | Sugie, Hideo Miyahara, Jun-ichi Fuseya, Yasuhiro Sato, Kei Sakurai, Takeyo Saito, Yoshihiko Takahashi, Makio Nishino, Ichizo Fukuda, Tokiko Yamashita, Hirofumi Kaji, Seiji |
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| Cites_doi | 10.1007/s11154-018-9448-1 10.1212/01.WNL.0000130486.54839.15 10.1002/ana.410430422 10.1097/CND.0000000000000012 10.1002/mus.24055 10.1016/j.jns.2016.07.007 10.1016/j.nmd.2009.02.007 10.1006/bbrc.1993.1368 10.1016/j.nmd.2005.09.003 10.1212/WNL.44.3_Part_1.467 10.1093/ndt/15.8.1232 10.1023/A:1005553907216 10.1016/j.ymgme.2008.09.008 10.1086/302261 10.1006/mgme.2002.3297 |
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| Keywords | ACADVL rhabdomyolysis very long-chain acyl-CoA dehydrogenase deficiency |
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| Notes | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 content type line 14 ObjectType-Report-1 ObjectType-Feature-4 content type line 23 ObjectType-Article-3 Correspondence to Dr. Hirofumi Yamashita, hirofumi@kuhp.kyoto-u.ac.jp |
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| References | 16. Takusa Y, Fukao T, Kimura M, et al. Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 75: 227-234, 2002. 8. Merinero B, Pascual Pascual SI, Perez-Cerda C, et al. Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 22: 802-810, 1999. 14. Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479-494, 1999. 3. Knottnerus SJG, Bleeker JC, Wust RCI, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 19: 93-106, 2018. 9. Voermans NC, Poels PJ, Kluijtmans LA, van Engelen BG. The effect of dantrolene sodium in Very Long Chain Acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 15: 844-846, 2005. 10. Yamamoto F, Nakamagoe K, Yamada K, et al. A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations. J Neurol Sci 368: 165-167, 2016. 11. Ohashi Y, Hasegawa Y, Murayama K, et al. A new diagnostic test for VLCAD deficiency using immunohistochemistry. Neurology 62: 2209-2213, 2004. 1. Aoyama T, Uchida Y, Kelley RI, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372, 1993. 13. Voermans NC, van Engelen BG, Kluijtmans LA, Stikkelbroeck NM, Hermus AR. Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. Am J Med 119: 176-179, 2006. 15. Fukao T, Watanabe H, Orii K, et al. Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediatr Res 49: 227-231, 2001. 2. Arnold GL, Van Hove J, Freedenberg D, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96: 85-90, 2009. 17. Cairns AP, O'Donoghue PM, Patterson VH, Brown JH. Very-long-chain acyl-coenzyme A dehydrogenase deficiency-a new cause of myoglobinuric acute renal failure. Nephrol Dial Transplant 15: 1232-1234, 2000. 5. Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M. Metabolic myopathies: a practical approach. Pract Neurol 18: 14-26, 2018. 18. Murata KY, Sugie H, Nishino I, Kondo T, Ito H. A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency. Muscle Nerve 49: 295-296, 2014. 4. Laforet P, Acquaviva-Bourdain C, Rigal O, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord 19: 324-329, 2009. 7. Smelt AH, Poorthuis BJ, Onkenhout W, et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43: 540-544, 1998. 6. Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44: 467-473, 1994. 12. Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T. Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene. J Clin Neuromuscul Dis 15: 69-72, 2013. 12 13 14 15 16 17 18 I Ogilvie (6) 1994; 44 1 2 3 4 5 7 8 9 Y Ohashi (11) 2004; 62 10 |
| References_xml | – reference: 12. Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T. Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene. J Clin Neuromuscul Dis 15: 69-72, 2013. – reference: 4. Laforet P, Acquaviva-Bourdain C, Rigal O, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord 19: 324-329, 2009. – reference: 9. Voermans NC, Poels PJ, Kluijtmans LA, van Engelen BG. The effect of dantrolene sodium in Very Long Chain Acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 15: 844-846, 2005. – reference: 5. Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M. Metabolic myopathies: a practical approach. Pract Neurol 18: 14-26, 2018. – reference: 2. Arnold GL, Van Hove J, Freedenberg D, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96: 85-90, 2009. – reference: 14. Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479-494, 1999. – reference: 7. Smelt AH, Poorthuis BJ, Onkenhout W, et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43: 540-544, 1998. – reference: 11. Ohashi Y, Hasegawa Y, Murayama K, et al. A new diagnostic test for VLCAD deficiency using immunohistochemistry. Neurology 62: 2209-2213, 2004. – reference: 17. Cairns AP, O'Donoghue PM, Patterson VH, Brown JH. Very-long-chain acyl-coenzyme A dehydrogenase deficiency-a new cause of myoglobinuric acute renal failure. Nephrol Dial Transplant 15: 1232-1234, 2000. – reference: 15. Fukao T, Watanabe H, Orii K, et al. Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediatr Res 49: 227-231, 2001. – reference: 10. Yamamoto F, Nakamagoe K, Yamada K, et al. A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations. J Neurol Sci 368: 165-167, 2016. – reference: 18. Murata KY, Sugie H, Nishino I, Kondo T, Ito H. A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency. Muscle Nerve 49: 295-296, 2014. – reference: 3. Knottnerus SJG, Bleeker JC, Wust RCI, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 19: 93-106, 2018. – reference: 8. Merinero B, Pascual Pascual SI, Perez-Cerda C, et al. Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 22: 802-810, 1999. – reference: 1. Aoyama T, Uchida Y, Kelley RI, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372, 1993. – reference: 16. Takusa Y, Fukao T, Kimura M, et al. Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 75: 227-234, 2002. – reference: 6. Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44: 467-473, 1994. – reference: 13. Voermans NC, van Engelen BG, Kluijtmans LA, Stikkelbroeck NM, Hermus AR. Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. Am J Med 119: 176-179, 2006. – ident: 3 doi: 10.1007/s11154-018-9448-1 – volume: 62 start-page: 2209 issn: 0028-3878 year: 2004 ident: 11 publication-title: Neurology doi: 10.1212/01.WNL.0000130486.54839.15 – ident: 7 doi: 10.1002/ana.410430422 – ident: 12 doi: 10.1097/CND.0000000000000012 – ident: 18 doi: 10.1002/mus.24055 – ident: 5 – ident: 10 doi: 10.1016/j.jns.2016.07.007 – ident: 4 doi: 10.1016/j.nmd.2009.02.007 – ident: 1 doi: 10.1006/bbrc.1993.1368 – ident: 13 – ident: 15 – ident: 9 doi: 10.1016/j.nmd.2005.09.003 – volume: 44 start-page: 467 issn: 0028-3878 year: 1994 ident: 6 publication-title: Neurology doi: 10.1212/WNL.44.3_Part_1.467 – ident: 17 doi: 10.1093/ndt/15.8.1232 – ident: 8 doi: 10.1023/A:1005553907216 – ident: 2 doi: 10.1016/j.ymgme.2008.09.008 – ident: 14 doi: 10.1086/302261 – ident: 16 doi: 10.1006/mgme.2002.3297 |
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| Snippet | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which... Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL , which... |
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| SubjectTerms | ACADVL Acyl-CoA dehydrogenase Acyl-CoA Dehydrogenase, Long-Chain - deficiency Acyl-CoA Dehydrogenase, Long-Chain - genetics Adult Case Report Congenital Bone Marrow Failure Syndromes - diagnosis Congenital Bone Marrow Failure Syndromes - genetics Congenital Bone Marrow Failure Syndromes - physiopathology Congenital Bone Marrow Failure Syndromes - therapy Dehydrogenases Genetic disorders Genetic Variation Humans Internal medicine Japan Male Mutation Oxidation Rhabdomyolysis Rhabdomyolysis - diagnosis Rhabdomyolysis - etiology Rhabdomyolysis - physiopathology Rhabdomyolysis - therapy very long-chain acyl-CoA dehydrogenase deficiency |
| Title | Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations |
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