Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency

Journal of Pediatrics

Volumn 133, Issue 2, 1998, Pages 247-253

  Cox, G F ^a   Souri, M ^a   Aoyama, T ^a   Rockenmacher, S ^a   Varvogli, L ^a   Rohr, F ^a   Hashimoto, T ^a   Korson, M S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE; MEDIUM CHAIN TRIACYLGLYCEROL; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE; VERY LONG CHAIN FATTY ACID;

ARTICLE; BRAIN DISEASE; CASE REPORT; COGNITION; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HEART VENTRICLE HYPERTROPHY; HEPATOMEGALY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LOW FAT DIET; MISSENSE MUTATION; MORBIDITY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0031904074     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70228-8     Document Type: Article

References (25)

1. ML Schwartz GF Cox MS Korson AE Lin A Atayde-Perez R Lacro A clinical approach to genetic cardiomyopathy in children Circulation 94 1996 2021 2038
2. DE Hale MJ Bennett Fatty acid oxidation disorders: a new class of metabolic diseases J Pediatr 121 1992 1 11
3. T Aoyama Y Uchida RI Kelley M Marble K Hofman JH Tonsgard A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase Biochem Biophys Res Commun 191 1993 1369 1372
4. C Bertrand C Largilliere MT Zabot M Mathieu C Vianey-Saban Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts Biochim Biophys Acta 1180 1993 327 329
5. S Yamaguchi Y Indo PM Coates T Hashimoto K Tanaka Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long chain acyl-CoA dehydrogenase deficiency Pediatr Res 34 1993 111 113
6. I Ogilvie M Pourfarzam S Jackson C Stockdale K Bartlett DM Turnbull Very long chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria Neurology 44 1994 467 473
7. T Aoyama M Souri S Ushikubo T Kamijo S Yamaguchi RI Kelley Purification of human very-long-chain acyl-Co A dehydrogenase and characterization of its deficiency in seven patients J Clin Invest 95 1995 2465 2473
8. AW Strauss CK Powell DE Hale MM Anderson A Ahuja JC Brackett Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood Proc Nat Acad Sci USA 92 1995 10496 10500
9. BS Andresen P Bross C Vianey-Saban P Divry MT Zabot CR Roe Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene Hum Mol Genet 5 1996 461 472
10. MC Brown-Harrison MA Nada H Sprecher C Vianey-Saban JJ Farquar AC Gilladoga Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy Biochem Mol Med 58 1996 59 65
11. T Sluysmans D Tuerlinckx C Hubinont C Verellen-Dumoulin M Brivet C Vianey-Sabin Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management J Pediatr 131 1997 444 446
12. M Souri T Aoyama K Orii S Yamaguchi T Hashimoto Mutation analysis of very-long-chain-acyl-CoA dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients Am J Hum Genet 58 1996 97 106
13. D Hale ML Batshaw PM Coates FE Freman SI Goodman I Singh Long-chain acyl CoA dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia Pediatr Res 19 1985 666 671
14. DE Hale CA Stanley PM Coates The long-chain-acyl-CoA dehydrogenase deficiency K Tanaka PM Coates Fatty acid oxidation: clinical, biochemical, and molecular aspects 1990 : Alan R. Liss New York 303 311
15. JH Tonsgard JH Stephens WJ Rhead D Penn AL Horwitz BS Kirschner Defect in fatty acid oxidation: laboratory and pathologic findings in a patient Pediatr Neurol 7 1991 125 130
16. C Largilliere C Vianey-Saban M Fontaine C Bertrand N Kacet J Farriaux Mitochondrial very long chain acyl-CoA dehydrogenase deficiency–a new disorder of fatty acid oxidation Arch Dis Child 73 1995 F103 F105
17. DP Kelly NJ Mendelson BE Sobel SR Bergman Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long chain acyl-CoA dehydrogenase deficiency) Am J Cardiol 71 1993 738 744
18. WR Treem CA Stanley DE Hale HB Leopold JS Hyams Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency Pediatrics 87 1991 328 333
19. R Parini B Garavaglia JM Saudubray P Bardelli D Melotti G Zecca Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests J Pediatr 119 1991 77 80
20. M Duran RJA Wanders JP deJager L Dorland L Bruinvis D Ketting 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment Eur J Pediatr 150 1991 190 195
21. R Pons DC De Vivo Primary and secondary carnitine deficiency syndromes J Child Neurol 10 1995 S8 S24
22. PB Corr MH Creer KA Yamada JE Saffitz BE Sobel Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation J Clin Invest 83 1989 927 936
23. KA Yamada J McHowat G-X Yan K Donahue J Peirick AG Kleber Cellular uncoupling induced by accumulation of long-chain acylcarnitine during ischemia Circ Res 74 1994 83 95
24. MC Madden PE Wolkowitcz GM Pohost JB McMillin MM Pike Acylcarnitine accumulation does not correlate with reperfusion recovery in palmitate-perfused rat hearts Am J Physiol 268 1995 H2505 H2512
25. M Souri T Aoyama GF Cox T Hashimoto Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase J Biol Chem 273 1998 4227 4231