Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 479-494

  Andresen, Brage Storstein ^a,b   Olpin, Simon ^c   Poorthuis, Ben J H M ^e   Scholte, Hans R ^f   Vianey Saban, Christine ^h   Wanders, Ronald ^g   Ijlst, Lodewijk ^g   Morris, Andrew ^d   Pourfarzam, Morteza ^d   Bartlett, Kim ^d   Baumgartner, E Regula ⁱ   DeKlerk, Johannis B C ^h   Schroeder, Lisbeth Dahl ^a,b   Corydon, Thomas J ^b   Lund, Hans ^a   Winter, Vibeke ^a   Bross, Peter ^a   Bolund, Lars ^b   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h HÔPITAL DEBROUSSE   (France)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ADOLESCENT; ADULT; ALLELE; ANIMAL; ARTICLE; CELL STRAIN COS1; CHILD; DNA SEQUENCE; EXON; GENE EXPRESSION; GENETIC VARIABILITY; GENETICS; GENOTYPE; HUMAN; INFANT; INTRON; MOLECULAR GENETICS; MUTATION; NEWBORN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; START CODON; WESTERN BLOTTING;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ACYL-COA DEHYDROGENASES; ADOLESCENT; ADULT; ALLELES; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; CODON, INITIATOR; COS CELLS; EXONS; GENE EXPRESSION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 0033069578     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302261     Document Type: Article

References (65)

1. Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, Teel L, et al (1987) Short-chain acyl-coenzyme A dehydrogenase deficiency: clinical and biochemical studies in two patients. J Clin Invest 79:1303-1309
2. Andresen BS, Bross P, Jensen TG, Winter V, Knudsen I, Kølvraa S, Jensen UB, et al (1993) A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). Am J Hum Genet 53:730-739
3. Andresen BS, Jensen TG, Bross P, Knudsen I, Winter V, Kølvraa S, Bolund L, et al (1994) Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene. Am J Hum Genet 54:975-988
4. Andresen BS, Bross P, Udvari S, Kirk J, Gray RGF, Kmock S, Chamoles N, et al (1997) The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients - is there a correlation between genotype and phenotype? Hum Mol Genet 6:695-708
5. Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, et al (1996a) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of 9 different mutations within this gene. Hum Mol Genet 5:461-472 (erratum, p 1390)
6. Andresen BS, Knudsen I, Jensen PKA, Rasmussen K, Gregersen N (1992) Two novel non-radioactive PCR-based assays in which dried blood spots, genomic DNA or whole cells are used for fast and reliable detection of the Z and S mutations in the gene for a - 1-antitrypsin. Clin Chem 38:2100-2107
7. Andresen BS, Vianey-Saban C, Bross P, Divry P, Roe CR, Nada MA, Knudsen I, et al (1996b) The mutational spectrum in very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. J Inherit Metab 19:169-172
8. Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K, et al (1995a) Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet 57:273-283
9. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, et al (1995b) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95:2465-2473
10. Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, et al (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191:1369-1372
11. Beinert H (1963) Acyl-CoA dehydrogenases. In: Boyer PD, Lardy H, Myrback K (eds) The enzymes. Vol 7. Academic Press, New York, pp 447-476
12. Bertrand C, Largillière C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very-long-chain acyl-CoA dehydrogenase deficiency: identification of new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180:327-329
13. Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, et al (1996) Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 58:971-978
14. Bross P, Andresen BS, Winter V, Kräutle F, Jensen TG, Nandy A, Kølvraa S, et al (1993) Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. Biochim Biophys Acta 1182:264-274
15. Bross P, Andresen BS, Gregersen N (1998) Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency. Prog Nucleic Acid Res Mol Biol 58:301-337
16. Brown-Harrison MC, Nada MA, Sprecher H, Vianey-Saban C, Farquhar J Jr, Gilladoga AC, Roe CR (1996) Very-long-chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med 58:59-65
17. Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE (1989) Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 83:927-936
18. Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, et al (1996) Ethylmalonic aciduria is associated with an a amino acid variant of short-chain acyl-coenzyme A dehydrogenase. Pediatr Res 39:1-8
19. Costa CG, Dorland L, de Almeida IT, Jakobs C, Duran M, Poll-The BT (1998) The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acyl-carnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 21:391-399
20. Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, et al (1997) Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res 38: 173-182
21. Coulondre C, Miller JH, Farabough PJ, Gilbert W (1978) Molecular basis of base substitution hot spots in E. coli. Nature 274:775-780
22. Desviat LR, Perez B, Garcia MJ, Martinez-Pardo M, Baldellou A, Arena J, Sanjurjo P, et al (1997) Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population. Eur J Hum Genet 5:196-202
23. 2+ release in pancreatic acinar cells. J Biol Chem 272:31435-31440
24. Frerman FE, Goodman SI (1985) Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. Biochem Med 33:38-44
25. Gillett GT, Krywawych S, Brivet M, Vianey-Saban, Gregersen N, Andresen BS, Brenton DP (1996) VLCAD deficiency pre-senting with recurrent rhabdomyolysis in an adult. J Inher Metab 19(suppl 1):108
26. Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON (1998) Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mut 12:141-144
27. Gregersen N, Andresen BS, Bross P, Winter V, Rüdiger N, Engst S, Christensen E, et al (1991a) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant protein in E coli. Hum Genet 86:545-551
28. Gregersen, N, Blakemore A, Winter V, Andresen BS, Kølvraa S, Bolund L, Curtis D, et al (1991b) Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. Clin Chim Acta 203:23-34
29. Gregersen N, Winter V, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, et al (1998) Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the normal population, as was the case for 625G→A, together conferring suceptibility to ethylmalonic aciduria. Hum Mol Genet 7:619-627
30. Gustafson S, Proper JA, Bowie EJ, Sommer SS (1987) Parameters affecting the yield of DNA from human blood. Biochemistry 165:294-299
31. Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA (1985) Long-chain acyl-coenzyme A dehydrogenase deficiency: an inherited cause of non-ketotic hypoglycemia. Pediatr Res 19:666-671
32. Ijlst L, Wanders R, Ushikubo S, Kameijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215:347-350
33. Indo Y, Coates PM, Hale DE, Tanaka K (1991) Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 30:211-215
34. Jensen TG, Andresen BS, Bross P, Jensen UB, Holme E, Kølvraa S, Gregersen N, et al (1992) Expression of wildtype and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells. Biochim Biophys Acta 1180:65-72
35. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet 61: 1309-1317
36. Kim JK, Wi JK, Youn JH (1996) Plasma free fatty acids decrease insulin-stimulated skeletal muscle uptake by suppressing glycolysis in conscious rats. Diabetes 45:446-453
37. Kolvraa S, Gregersen N, Christensen E, Hobolth N (1982) In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta 126:53-67
38. Largillière C, Vianey-Saban C, Fontaine M, Bertrand C, Kacet N, Farriaux JP (1995) Mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency - a new disorder of fatty acid oxidation. Arch Dis Child 73:F103-105
39. Lehman TC, Hale DE, Bhala A, Thorpe C (1990) An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion. Anal Biochem 186: 280-284
40. 3H] myristic acids for the detection of defects of fatty acid oxidation in intact fibroblasts. J Inherit Metab Dis 13:58-68
41. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
42. McGarry JD, Brown NF (1997) The mitochondrial carnitine palmitoyltransferase system. Eur J Biochem 244:1-14
43. Merinero B, Perez-Cerda C, Garcia MJ, Gangoiti J, Font LM, Garcia Silva MT, Vianey-Saban C, et al (1996) Mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course. J Inherit Metab Dis 19:173-176
44. Millington DS, Terada N, Chace DH, Chen YT, Ding JH, Kodo N, Roe CR (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In: Coates PM, Tanaka K (eds) New developments in fatty acid oxidation. Wiley-Liss, New York, pp 339-354
45. Minetti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, Pons R, et al (1998) Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. Neuromuscul Disord 8:3-6
46. Nada MA, Vianey-Saban C, Roe CR, Ding JH, Mathieu M, Wappner RS, Bialer MG, et al (1996) Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn 16: 117-124
47. Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM (1994) Very-long-chain acyl-coenzyme A dehydrogenase deficiency presenting with excercise-induced myoglobinuria. Neurology 44:467-473
48. Olpin SE, Manning NJ, Pollitt RJ, Clarke S (1997) Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid. J Inherit Metab Dis 20: 415-419
49. Onkenhout W, Venizelos V, van der Poel PFH, van den Heuvel MPM, Poorthuis BJHM (1995) Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem 41:1467-1474
50. Paumen MB, Ishida Y, Muramatsu M, Yamamoto M, Honjo T (1997) Inhibition of carnitine palmitoyltransferase I augments sphingolipid synthesis and palmitate-induced apoptosis. J Biol Chem 272:33224-33229
51. Roe CR, Coates PM (1995) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1501-1533
52. Scholte HR, Ross JD, Blom W, Boonman AMC, van Diggelen OP, Hall CL, Huijmans JGM, et al (1992) Assessment of deficiencies of fatty acyl-CoA dehydrogenase in fibroblasts, muscle and liver. J Inherit Metab Dis 15:347-352
53. Smelt AHM, Poorthuis BJHM, Onkenhout W, Scholte HR, Andresen BS, vanDuinen SG, Gregersen N, et al (1998) Very-long-chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43:540-544
54. Souri M, Aoyama T, Cox GF, Hashimoto T (1998a) Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. J Biol Chem 273: 4227-4231
55. Souri M, Aoyama T, Hoganson G, Hashimoto T (19986) Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. FEBS Lett 426:187-190
56. Souri M, Aoyama T, Orii K, Yamaguchi S, Hashimoto T (1996) Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am J Hum Genet 58:97-106
57. Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF (1995) Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 92:10496-10500
58. Straussberg R, Harel L, Varsano I, Elpeleg ON, Shamir R, Amir J (1997) Recurrent myoglobinuria as a presenting manifestation of very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 99:894-895
59. Tanaka K, Gregersen N, Ribes A, Kim J, Kolvraa S, Winter V, Eiberg H, et al (1997) A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration. Pediatr Res 41:201-209
60. Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S (1993) Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4:314-320
61. Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, et al (1995) Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Molec Genet 4:19-29
62. Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot MT, Mathieu M, Roe CR (1998) Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269:43-62
63. Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K (1993) Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 34:111-113
64. 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 49: 1280-1291
65. Zhang Z, Kelly DP, Kim J-J, Zhou Y, Ogden ML, Whelan AJ, Strauss AW (1992) Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene. Biochemistry 31:81-89