A Case of Skeletal Muscle Type Very-Long-Chain-Acyl CoA Dehydrogenase (VLCAD) Deficiency with Repeated Rhabdomyolysis

Brain and Nerve

Volumn 56, Issue 1, 2004, Pages 64-68

  Aoyama, Tomonori ^a   Yazawa, Ikuru ^a   Sugie, Hideo ^b   Shigematsu, Yosuke ^c   Sakura, Nobuo ^d   Nakase, Hirofumi ^a  

^a TORANOMON HOSPITAL   (Japan)

^b Neuromuscular Laboratory   (Japan)

^c University of Fukui   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

Author keywords

Acute renal failure; Forearm exercise test; Rhabdomyolysis; Very long chain acyl CoA dehydrogenase(VLCAD) deficiency

Indexed keywords

ACYL COENZYME A; ACYLCARNITINE; CREATININE; LACTIC ACID; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; CARBOHYDRATE DIET; CASE REPORT; CREATINE KINASE BLOOD LEVEL; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXERCISE; EXERCISE TEST; FATTY ACID OXIDATION; HEMODIALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LACTATE BLOOD LEVEL; LEUKOCYTE; LOW FAT DIET; MALE; MUSCLE BIOPSY; MUSCLE LEVEL; MYALGIA; MYOGLOBINURIA; QUADRICEPS FEMORIS MUSCLE; RHABDOMYOLYSIS; SKELETAL MUSCLE; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADULT; BIOPSY; CREATINE KINASE; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MUSCLE, SKELETAL; RECURRENCE; RHABDOMYOLYSIS;

EID: 1542289120     PISSN: 00068969     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL: Harrison's Principles of Internal Medicine. 15th ed, McGraw-Hill, New York, 2001, pp 2520-2524
2. Rinald P, Raymond K, Al-Odaib A, Bennett MJ: Clinical and biochemical features of fatty acid oxidation disorders. Curr Opin Pediatr 10: 615-621, 1998
3. Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K: Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl CoA dehydrogenase deficiency. Pediatr Res 34: 111, 1993
4. Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner R, Deklerk J, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N: Clear correlation of genotype with disease phenotype in very-long-chain-acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479-494, 1999
5. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uekate K, Tanaka K, Hashimoto T: Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95: 2465-2473, 1995
6. Miietti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, Pons R, Taroni F, Cordone G: Very-long-chain-acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. Neuromuscul Disord 8: 3-6, 1998
7. 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
8. Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F: Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol 22: 98-105, 2000
9. Scholte HR, Van Coster RNA, de Jonge PC, Poorthuis BJHM, Jeneson JAL, Andresen BS, Gregersen N, de Klerk JBC, Busch HFM: Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: Clinical and biochemical differences with the fatal cardiac phenotype. Neuromuscul Disord 9: 313-319, 1999