Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL Gene

Journal of Clinical Neuromuscular Disease

Volumn 15, Issue 2, 2013, Pages 69-72

  Antunes, Ana Patrícia ^a   Nogueira, Célia ^b   Rocha, Hugo ^b   Vilarinho, Laura ^b   Evangelista, Teresinha ^c  

^a HOSPITAL DE SANTA MARIA   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH   (Portugal)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Acadvl Gene C. 1097G.A Homozygous Mutation; Rhabdomyolysis; Tandem Mass Spectrometry; Very Long Chain Acyl Coa Dehydrogenase; Vlcad

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE DERIVATIVE; TETRADECENOYLCARNITINE; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COA DEHYDROGENASE; VERY LONG CHAIN FATTY ACID;

ACADVL GENE; ADULT; ADULT DISEASE; CASE REPORT; ENZYME ACTIVITY; FATTY ACID OXIDATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; MUSCLE BIOPSY; NEWBORN SCREENING; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; REVIEW; RHABDOMYOLYSIS; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; MUTATION; RHABDOMYOLYSIS;

EID: 84889046429     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0000000000000012     Document Type: Review

References (10)

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. 1993;191:1369-1372.
2. Spiekerkoetter U, Sun B, Zytkovicz T, et al. MS/MSbased newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr. 2003;143:335-342.
3. Vianey-Saban C, Divry P, Brivet M, et al. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clinica Chimica Acta. 1998;269:43-62.
4. Shchelochkov O, Wong LJ, Shaibani S, et al. Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. Muscle Nerve. 2009;39:374-382.
5. Laforêt 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. 2009;19:324-329.
6. Rustin P, Chretien D, Bourgeron T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chem Acta. 1994;228:35-51.
7. Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in verylong-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64:479-494.
8. Bertrand C, Largilliere C, Zabot MT, et al. Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta. 1993;1180:327-329.
9. Vianey-Saban C, Divry P, Brivet M, et al. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta. 1998;269:43-62.
10. Melli G, Chaudhry V, Cornblath DR. Rhabdomyolysis: An evaluation of 475 hospitalized patients. Medicine. 2005;84:377-385.