A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: A case report

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Dessein, Anne Frédérique ^a   Fontaine, Monique ^a   Andresen, Brage S ^b,c   Gregersen, Niels ^b   Brivet, Michèle ^d   Rabier, Daniel ^e   Napuri Gouel, Silvia ^f   Dobbelaere, Dries ^g   Mention Mulliez, Karine ^g   Martin Ponthieu, Annie ^a   Briand, Gilbert ^a,h   Millington, David S ⁱ   Vianey Saban, Christine ^j   Wanders, Ronald Ja ^k   Vamecq, Joseph ^a,l  

^a Department of Biochemistry and Molecular Biology   (France)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^d BICÊTRE HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h UNIV LILLE   (France)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

^j HOSPICES CIVILS DE LYON   (France)

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

^l INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CARNITINE; GLUTAMIC ACID; GLUTAMINE; KETONE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; PALMITIC ACID; PHENOBARBITAL; PHENYTOIN; FATTY ACID;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BLOOD SAMPLING; CASE REPORT; COMA; CYTOLYSIS; DIARRHEA; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPTIC STATE; FATTY ACID OXIDATION; FEBRILE BONE MARROW APLASIA; FEMALE; FIBROBLAST; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENETIC ASSOCIATION; GLUCOSE BLOOD LEVEL; HEPATOMEGALY; HOSPITALIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGLYCEMIA; INFANT; LETHARGY; LYMPHOCYTE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MITOCHONDRIAL RESPIRATION; PHENOTYPE; TONIC CLONIC SEIZURE; URINARY EXCRETION; VOMITING; ADULT; BLOOD; CELL CULTURE; CYTOLOGY; GENETIC PREDISPOSITION; GENETICS; MALE; METABOLISM; MUTATION; NUTRITIONAL DEFICIENCY; OXIDATION REDUCTION REACTION; PATHOPHYSIOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SKIN;

ACYL-COA DEHYDROGENASE; ADULT; CARNITINE; CELLS, CULTURED; CHILD, PRESCHOOL; DEFICIENCY DISEASES; FATTY ACIDS; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LYMPHOCYTES; MALE; MUTATION; OXIDATION-REDUCTION; PEDIGREE; POLYMERASE CHAIN REACTION; SKIN;

EID: 77957269004     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-26     Document Type: Article

References (45)

1. Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships. N Gregersen P Bross BS Andresen, Eur J Biochem 2004 271 470 482 10.1046/j.1432-1033.2003. 03949.x 14728674
2. Mitochondrial fatty acid oxidation disorders. CR Roe JH Ding, The metabolic and molecular bases of inherited disease McGraw-Hill, New York, Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, 2005 8 2297 2326
3. Mitochondrial fatty acid oxidation defects - remaining challenges. N Gregersen BS Andresen CB Pedersen RK Olsen TJ Corydon P Bross, J Inherit Metab Dis 2008 31 643 657 10.1007/s10545-008-0990-y 18836889
4. Mitochondrial fatty-acid oxidation disorders. M Kompare WB Rizzo, Semin Pediatr Neurol 2008 15 140 149 10.1016/j.spen.2008.05.008 18708005
5. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. N Gregersen R Lauritzen K Rasmussen, Clin Chim Acta 1976 70 417 425 10.1016/0009-8981(76)90355-7 947635
6. In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. S Kølvraa N Gregersen E Christensen N Hobolth, Clin Chim Acta 1982 126 53 67 10.1016/0009-8981(82)90361-8 7172449
7. Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency. Y Ikeda DE Hale SM Keese PM Coates K Tanaka, Pediatr Res 1986 20 843 847 10.1203/00006450-198609000-00007 3748657
8. Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. DP Kelly JJ Kim JJ Billadello BE Hainline TW Chu AW Strauss, Proc Natl Acad Sci USA 1987 84 4068 4072 10.1073/pnas.84.12.4068 3035565
9. Molecular survey of a prevalent mutation, 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. I Yokota PM Coates DE Hale P Rinaldo K Tanaka, Am J Hum Genet 1991 49 1280 1291 1684086
10. Molecular basis of mitochondrial fatty acid oxidation defects. PM Coates K Tanaka, J Lipid Res 1992 33 1099 1110 1431593
11. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. K Tanaka I Yokota PM Coates AW Strauss DP Kelly Z Zhang N Gregersen BS Andresen Y Matsubara D Curtis YT Chen, Hum Mutat 1992 1 271 279 10.1002/humu.1380010402 1363805
12. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? BS Andresen P Bross S Udvari J Kirk G Gray S Kmoch N Chamoles I Knudsen V Winter B Wilcken I Yokota K Hart S Packman JP Harpey JM Saudubray DE Hale L Bolund S Kølvraa N Gregersen, Hum Mol Genet 1997 6 695 707 10.1093/hmg/6.5.695 9158144
13. Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease -associated mutation localized in the active site. B Küchler AG Abdel-Ghany P Bross A Nandy I Rasched S Ghisla, Biochem J 1999 337 225 230 10.1042/0264-6021:3370225 9882619
14. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. BS Andresen SF Dobrowolski L O'Reilly J Muenzer SE McCandless DM Frazier S Udvari P Bross I Knudsen R Banas DH Chace P Engel EW Naylor N Gregersen, Am J Hum Genet 2001 68 1408 1418 10.1086/320602 11349232
15. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. N Gregersen BS Andresen MJ Corydon TJ Corydon RK Olsen L Bolund P Bross, Hum Mutat 2001 18 169 189 10.1002/humu.1174 11524729
16. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. SH Korman A Gutman R Brooks T Sinnathamby N Gregersen BS Andresen, Mol Genet Metab 2004 82 121 129 10.1016/j.ymgme.2004.03.002 15171999
17. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. WJ Rhead, J Inherit Metab Dis 2006 29 370 377 10.1007/s10545-006-0292-1 16763904
18. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. EM Maier SW Gersting KF Kemter JM Jank M Reindl DD Messing MS Truger CP Sommerhoff AC Muntau, Hum Mol Genet 2009 18 1612 1623 10.1093/hmg/ddp079 19224950
19. 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. K Tanaka N Gregersen A Ribes J Kim S Kølvraa V Winter H Eiberg G Martinez T Deufel B Leifert R Santer B François E Pronicka A Lszlá S Kmoch I Kremensky L Kalaydjicva I Ozalp MA Ito, Pediatr Res 1997 41 201 209 10.1203/00006450-199702000-00008 9029639
20. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. L Waddell V Wiley K Carpenter B Bennetts L Angel BS Andresen B Wilcken, Mol Genet Metab 2006 87 32 9 10.1016/j.ymgme.2005.09.020 16291504
21. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. R Ensenauer JL Winters PA Parton DF Kronn JW Kim D Matern P Rinaldo SH Hahn, Genet Med 2005 7 339 343 10.1097/01.GIM.0000164548.54482.9D 15915086
22. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. EM Maier B Liebl W Röschinger U Nennstiel-Ratzel R Fingerhut B Olgemöller U Busch N Krone R v Kries AA Roscher, Hum Mutat 2005 25 443 452 10.1002/humu.20163 15832312
23. The inborn errors of mitochondrial fatty acid oxidation. C Vianey-Liaud P Divry N Gregersen M Mathieu, J Inherit Metab Dis 1987 10 Suppl 1 159 200 10.1007/BF01812855 3119938
24. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. AK Iafolla RJ Thompson Jr CR Roe, J Pediatr 1994 124 409 415 10.1016/S0022-3476(94)70363-9 8120710
25. Molecular and functional characterisation of mild MCAD deficiency. J Zschocke A Schulze M Lindner S Fiesel K Olgemöller GF Hoffmann J Penzien JP Ruiter RJ Wanders E Mayatepek, Hum Genet 2001 108 404 408 10.1007/s004390100501 11409868
26. Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein. I Yokota T Saijo J Vockley K Tanaka, J Biol Chem 1992 267 26004 26010 1361190
27. Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer. T Saijo WJ Welch K Tanaka, J Biol Chem 1994 269 4401 4408 7905878
28. Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. P Bross C Jespersen TG Jensen BS Andresen MJ Kristensen V Winter A Nandy F Kräutle S Ghisla L Bolund JJP Kim N Gregersen, J Biol Chem 1995 270 10284 10290 10.1074/jbc.270.17.10284 7730333
29. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. JB Lundemose S Kølvraa N Gregersen E Christensen M Gregersen, Mol Pathol 1997 50 212 217 10.1136/mp.50.4.212 9350306
30. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. RJ Pollitt JV Leonard, Arch Dis Child 1998 79 116 119 10.1136/adc.79.2.116 9797590
31. The sudden infant death syndrome gene: does it exist? SH Opdal TO Rognum, Pediatrics 2004 114 506 e512 10.1542/peds.2004-0683 15466077
32. Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria. M Fontaine N Porchet C Largilliere S Marrakchi M Lhermitte JP Aubert P Degand, Clin Chem 1989 35 2148 2151 2551543
33. Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. M Fontaine G Briand L Vallée G Ricart P Degand P Divry C Vianey-Saban J Vamecq, Clin Chim Acta 1996 252 109 122 10.1016/0009-8981(96)06323-1 8853559
34. Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders. AF Dessein M Fontaine D Dobbelaere K Mention-Mulliez A Martin-Ponthieu G Briand J Vamecq, Clin Chim Acta 2009 406 23 26 10.1016/j.cca.2009.04.026 19422814
35. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. JL Van Hove W Zhang SG Kahler CR Roe YT Chen N Terada DH Chace AK Iafolla JH Ding DS Millington, Am J Hum Genet 1993 52 958 966 8488845
36. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. C Vianey-Saban B Mousson C Bertrand D Stamm R Dumoulin MT Zabot P Divry D Floret M Mathieu, Eur J Pediatr 1993 152 334 338 10.1007/BF01956748 8482285
37. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. JM Saudubray FX Coudé F Demaugre C Johnson KM Gibson WL Nyhan, Pediatr Res 1982 16 877 881 10.1203/00006450-198210000-00015 7145511
38. Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. M Brivet A Slama JM Saudubray A Legrand A Lemonnier, Ann Clin Biochem 1995 32 154 159 7785942
39. Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts. C Bertrand R Dumoulin P Divry M Mathieu C Vianey-Saban, Clin Chim Acta 1992 210 75 91 10.1016/0009-8981(92)90047-T 1424161
40. Human trifunctional protein deficiency. L IJlst F Poggi JP Bonnefont A Munnich M Brivet D Rabier J-M Saudubray, Biochem Biophys Res Commun 1992 188 1139 1145 10.1016/0006-291X(92)91350-Y 1445348
41. Molecular Basis of Hepatic Carnitine Palmitoyltransferase I Deficiency. L IJlst H Mandel W Oostheim JPN Ruiter A Gutman RJA Wanders, J Clin Invest 1998 102 527 531 10.1172/JCI2927 9691089
42. Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening. M Downing NJ Manning RN Dalton S Krywawych J Oerton, J Inherit Metab Dis 2008 31 550
43. The Y42 H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. L O'Reilly P Bross TJ Corydon SE Olpin J Hansen JM Kenney SE McCandless DM Frazier V Winter N Gregersen PC Engel BS Andresen, Eur J Biochem 2004 271 4053 4063 10.1111/j.1432-1033.2004.04343.x 15479234
44. 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). BS Andresen P Bross TG Jensen V Winter I Knudsen S Kølvraa UB Jensen L Bolund M Duran JJ Kim D Curtis P Divry C Vianey-Saban N Gregersen, Am J Hum Genet 1993 53 730 739 8102510
45. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. S Albers HL Levy M Irons AW Strauss D Marsden, J Inherit Metab Dis 2001 24 417 418 10.1023/A:1010533408635 11486912