Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan

Pediatric Research

Volumn 64, Issue 6, 2008, Pages 667-672

  Tajima, Go ^a   Sakura, Nobuo ^a   Shirao, Kenichiro ^a   Okada, Satoshi ^a   Tsumura, Miyuki ^a   Nishimura, Yutaka ^b   Ono, Hiroaki ^c   Hasegawa, Yuki ^d   Hata, Ikue ^e   Naito, Etsuo ^f   Yamaguchi, Seiji ^d   Shigematsu, Yosuke ^e   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION   (Japan)

^c HIROSHIMA PREFECTURAL HOSPITAL   (Japan)

^d SHIMANE UNIVERSITY   (Japan)

^e UNIVERSITY OF FUKUI   (Japan)

^f UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

2 HEXADECENOYL COA; ACYLCARNITINE; CARNITINE; COENZYME A; PALMITOYL COENZYME A; TETRADECENOYLCARNITINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMATOGRAPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SYNTHESIS; FEMALE; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPOGLYCEMIA; JAPAN; LIPID BLOOD LEVEL; LYMPHOCYTE; MALE; MYOPATHY; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL COENZYME A; ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT, NEWBORN; JAPAN; LIPID METABOLISM DISORDERS; MALE; NEONATAL SCREENING; PALMITOYL COENZYME A; TANDEM MASS SPECTROMETRY; YOUNG ADULT;

EID: 57849105055     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/PDR.0b013e318187cc44     Document Type: Article

References (25)

1. Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, Hashimoto T 1993 A novel disease with deficiency of mitochondrial very-long-chain acyl CoA dehydrogenase. Biochem Biophys Res Commun 191:1369-1372
2. 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
3. Bertrand C, Largillière C, Zabot MT, Mathieu M, Vianey-Saban C 1993 Very-long-chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180:327-329
4. Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Sakura N, Tajima G. Yamaguchi S 2002 Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci 776:39-48
5. Tajima G, Sakura N, Yofune H, Dwi Bahagia Febriani A, Nishimura Y, Sakamoto A, Ono H, Shigematsu Y, Kobayashi M 2005 Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography. Clin Chim Acta 353:193-199
6. Tajima G, Sakura N, Yofune H, Nishimura Y, Sakamoto A, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M 2005 Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan. J Chromatogr B Analyt Technol Biomed Life Sci 823:122-130
7. Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AH, Ijlst L 1999 Disorders of mitochondrial fatty acyl-CoA β-oxidation. J Inherit Metab Dis 22:442-487
8. Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143:335-342
9. Schymik I, Liebig M, Mueller M, Wendel U, Mayatepek E, Strauss AW, Wanders RJ, Spiekerkoetter U 2006 Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr 149:128-130
10. Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U 2006 Neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118:1065-1069
11. Dieuaide-Noubhani M, Novikov D, Baumgart E, Vanhooren JC, Fransen M, Goethals M, Vandekerckhove J, van Veldhoven PP, Mannaerts GP 1996 Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases and evidence that fatty acids and the C27 bile acids di- and tri-hydroxycoprostanic acids are metabolized by separate multifunctional proteins. Eur J Biochem 240:660-666
12. Currie LA, Horwitz W 1994 IUPAC recommendation for defining and measuring detection and quantification limits. Analusis 22:M24-M26
13. Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Yarita H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I 2004 A new diagnostic test for VLCAD deficiency using immunohistochemistry. Neurology 62:2209-2213
14. Vianey-Saban C, Divry P, Brivet M, Nada M, Zabor M-T, Mathieu M, Roe C 1998 Mitochondrial very-long-chain acyl-conzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269:43-62
15. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uetake K, Tanaka K, Hashimoto T 1995 Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95:2465-2473
16. 3H]oleic acid. J Inherit Metab Dis 20:415-419
17. Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF 2001 Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47:1945-1955
18. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF 2003 Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406
19. Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pit JJ 2006 VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 88:166-170
20. Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Tajima G, Sakura N, Yamaguchi S, Takayanagi M 2003 Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. J Chromatogr B Analyt Technol Biomed Life Sci 792:63-72
21. Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P 2001 Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 18:169-189
22. Zhang J, Zhang W, Zou D, Chen G, Wan T, Zhang M, Cao X 2002 Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family. Biochem Biophys Res Commun 297:1033-1042
23. Oey NA, Ruiter JP, Ijlst L, Attie-Bitach T, Vekemans M, Wanders RJ, Wijburg FA 2006 Acyl-CoA dehydrogenase 9 (ACAD9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Biochem Biophys Res Commun 346:33-37
24. Ensenauer R, He M, Willard J-M, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen A-W, Isaya G, Vockley J 2005 Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial β-oxidation of unsaturated fatty acids. J Biol Chem 280:32309-32316
25. He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J 2007 A new genetic disorder in mitochondrial fatty acid β-oxidation: ACAD9 deficiency. Am J Hum Genet 81:87-103