Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients

Clinica Chimica Acta

Volumn 269, Issue 1, 1998, Pages 43-62

  Vianey Saban, Christine ^a   Divry, Priscille ^a   Brivet, Michèle ^b   Nada, Mohamed ^c   Zabot, Marie Thérèse ^a   Mathieu, Monique ^a   Roe, Charles ^c  

^a HÔPITAL DEBROUSSE   (France)

^b BICÊTRE HOSPITAL   (France)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Fatty acid oxidation; Fibroblasts; Lymphocytes; Paediatric chemistry; Postmortem diagnosis; Prenatal diagnosis

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; VERY LONG CHAIN FATTY ACID;

AMNION CELL; ARTICLE; CELL CULTURE; CELL ISOLATION; CHORION VILLUS; CLINICAL TRIAL; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FETUS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; IN VITRO STUDY; LIVER; MAJOR CLINICAL STUDY; MITOCHONDRION; MORTALITY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; SKIN FIBROBLAST; TROPHOBLAST;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; CARNITINE O-PALMITOYLTRANSFERASE; CELLS, CULTURED; ENZYME INHIBITORS; EPOXY COMPOUNDS; FATTY ACIDS; FEMALE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; OXIDATION-REDUCTION; PALMITIC ACID; PREGNANCY; PRENATAL DIAGNOSIS; SKIN;

EID: 0032509853     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(97)00185-X     Document Type: Article

References (41)

1. Vianey-Liaud C., Divry P., Gregersen N., Mathieu M. The inborn errors of mitochondrial fatty acid oxidation. J Inher Metab Dis. 10(Suppl. 1):1987;159-198.
2. Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995:1501-1533.
3. Schultz H. Beta oxidation of fatty acids. Biochim Biophys Acta. 1081:1991;109-120.
4. Izai K., Uchida Y., Orii T., Yamamoto S., Hashimoto T. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase. J Biol Chem. 267:1992;1027-1033.
5. Uchida Y., Izai K., Orii T., Hashimoto T. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-Coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem. 267:1992;1034-1041.
6. Aoyama T., Souri M., Ushikubo S., Kamijo T., Yamaguchi S., Kelley R.I.et al. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Inv. 95:1995;2465-2473.
7. Aoyama T., Ueno I., Kamijo T., Hashimoto T. Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid β-oxidation system: cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. J Biol Chem. 269:1994;19088-19094.
8. Bertrand C., Largilliere C., Zabot M.T., Mathieu M., Vianey-Saban C. Very long chain acyl-CoA dehydrogenase deficiency: identifcation of a new inborn error of mitochondrial fatty acid oxidation in fbroblasts. Biochim Biophys Acta. 1180:1993;327-329.
9. Aoyama T., Uchida Y., Kelley R.I., Marble M., Hofman K., Tonsgard J.H.et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochim Biophys Res Com. 191:1993;1369-1372.
10. Yamaguchi S., Indo Y., Coates P.M., 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. 34:1993;111-113.
11. Vianey-Saban C., Mousson B., Bertrand C., Stamm D., Dumoulin R., Zabot M.T., Divry P., Floret D., Mathieu M. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycemia. Eur J Pediatr. 152:1993;334-338.
12. Pande S.V., Brivet M., Slama A., Demaugre A., Aufrant F., Saudubray J.M. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block. J Clin Inv. 91:1993;1247-1252.
13. Bertrand C., Dumoulin R., Divry P., Mathieu M., Vianey-Saban C. Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts. Clin Chim Acta. 210:1992;75-91.
14. Finocchiaro G., Ito I., Tanaka K. Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver. J Biol Chem. 262:1987;7982-7989.
15. Van Hove J.L.K., Zhang W., Kahler S.G., Roe C.R., Chen Y.T., Terada N., Chace D.H., Lafolla A.K., Ding J.H., Millington D.S. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet. 52:1993;958-966.
16. Bradford M.M. A rapid and sensitive method for the quantitation of micogram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 72:1976;248-254.
17. Vianey-Saban C., Guffon N., Delolme F., Guibaud P., Mathieu M., Divry P. Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry. J Inher Metab Dis. 20:1997;411-414.
18. Lepage G., Roy C.C. Direct transesterification of all classes of lipids in one-step reaction. J Lipid Res. 27:1986;114-120.
19. Okenhout W., Venizelos V., Van Der Poel P.F.H., Van Der Heuvel M.P.M., Porthuis B.J.H.M. Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem. 41:1995;1467-1474.
20. Baumgartner R, Fowler B, Wyler F, Vianey-Saban C. Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency: neonatal cardiorespiratory arrest and aspects of treatment. VI International Congress Inborn Errors of Metabolism, Milano, May 27-31, 1994 [Abstract].
21. Bianchi E, Torcetta F, Savasta S, Varesco L, Cordini S. LCAD deficiency in a 6-year-old female without CNS involvement. Second International Symposium Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation, Philadelphia, November 3-6, 1991 [Abstract P-24].
22. Brown-Harrison M.C., Nada M.A., Sprecher H., Vianey-Saban C., Farquhar J., Gilladoga A.C., Roe C.R. Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Molec Med. 58:1996;59-65.
23. Costa CG, Struys EA, Ten Brink HJ, Dorland L, Tavares De Almeida I, Jakobs C, Duran M, Poll-The BT. The effect of fasting, LCT-load and carnitine-load on plasma long-chain acylcarnitine levels in VLCAD deficiency. J Inher Metab Dis 1996;19(Suppl 1)54 [Abstract].
24. Gillett GT, Krywawych S, Brivet M, Vianey-Saban C, Gregersen N, Andresen BS, Brenton DP. VLCAD deficiency presenting with recurrent rhabdomyolysis in an adult. J Inher Metab Dis 1996;19(Suppl. 1)54 [Abstract].
25. Hug G, Daugherty C, Vianey-Saban C, Ryan M, Gibbons P, Knilans T et al. Deficient activity of membrane bound very-long chain acyl-CoA dehydrogenase (VLCAD) in twin boys. Clinical, biochemical and morphological observations. Pediatr Res 1993;35;36A:202 [Abstract].
26. Largilliere C, Vianey-Saban C, Bertrand C, Divry P, Fontaine M. A new case of long-chain acyl-CoA dehydrogenase deficiency. SSIEM 29th Annual Meeting, London, September 10-13, 1991 [Abstract].
27. Largilliere C., Vianey-Saban C., Fontaine M., Bertrand C., Kacet N., Farriaux J.P. Mitochondrial very long chain acyl-CoA dehydrogenase deficiency - a new disorder of fatty acid oxidation. Arch Dis Child. 73:1995;F103-F105.
28. Merinero B., Perez-Cerda C., Garcia M.J., Gangoiti J., Garcia X., Silva M.T., Vianey-Saban C.et al. Mitochondrial very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency: a case with a mild clinical condition. J Inher Metab Dis. 19:1996;173-176.
29. Nada M.A., Vianey-Saban C., Roe C.R., Ding J.H., Mathieu M., Wappner R.S., Bialer M.G., McGlynn J.A., Mandon G. Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn. 16:1996;117-124.
30. Seargent LE, Phillips S, Dilling LA, Giddins N, Roe, CR, Greenberg CR. Cardiomyopathy in infancy and post-mortem diagnosis of a fatty acid oxidation defect. Clin Biochem 1995;28:323-324 [Abstract].
31. Tuerlinckx D., Sluysmans T., Hubinon C., Vanhoof F., Verellen-Dumoulin C., Brivet M., Vianey-Saban C. Very-long-chain acyl-CoA dehydrogenase deficiency in two siblings: good evolution due to prenatal diagnosis and prompt management. J Pediatr. 131:1997;444-446.
32. Vianey-Saban C, Bertrand C, Largilliere C, Baumgartner R, Rolland MO, Divry P. Identification of mitochondrial very-long-chain acyl-CoA dehydrogenase in two patients. Enzyme Protein 1993;47:5 [Abstract].
33. Andresen B.S., Bross P., Vianey-Saban C., Divry P., Zabot M.T., Roe C.R., Nada M.A., Byskov A., Kruse T.A., Neve S., Kristiansen K., Knudsen I., Corydon M.J., Gregersen N. 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.
34. Aoyama T., Souri M., Ueno I., Kamijo T., Yamaguchi S., Rhead W.J.et al. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet. 57:1995;273-283.
35. Varanasi U., Chu S., Espinosa R., Lebeau M.M., Reddy J.K. Isolation of the human peroxisomal acyl-CoA oxidase gene: Organisation, promoter analysis, and chromosomal localization. Pro Natl Acad Sci USA. 91:1994;3107-3111.
36. Orii K.O., Aoyama T., Souri M., Orii K.E., Kondo N., Orii T., Hashimoto T. Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis. Biochim Biophys Res Comm. 217:1995;987-992.
37. Lehman T.C., Hale D.E., Bhala A., Thorpe C. An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium assay. Anal Biochem. 186:1990;280-284.
38. Ogilvie I., Pourfarzam M., Jackson S., Stockdale C., Bartlett K., Turnbull D.M. Very long-chain acylcoenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology. 44:1994;467-473.
39. Hale DE, Stanley CA, Coates PM. The long-chain acyl-CoA dehydrogenase deficiency. In: Tanaka K, Coates PM, editors. Fatty acid oxidation: clinical, biochemical and molecular aspects. New York: Alan R. Liss, 1988;321:303-311.
40. Souri M., Aoyama T., Orii K., Yamaguchi S., Hashimoto T. Mutation analysis of very-long-chain acyl-Coenzyme A dehydrogenase (VLCAD) deficiency: identifcation and characterization of mutant VLCAD cDNAs from four patients. Am J Hum Genet. 58:1996;97-106.
41. Andresen BS, Bross P, Lund H, Schroeder LD, Vianey-Saban C, Divry P, et al. VLCAD deficiency - correlation between genotype and phenotype. J Inher Met Dis. 1996;19(Suppl 1):7 [Abstract].