Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzynie A oxidase deficiency

Human Mutation

Volumn 28, Issue 9, 2007, Pages 904-912

  Ferdinandusse, Sacha ^a,c   Denis, Simone ^a   Hogenhout, Eveline M ^a   Koster, Janet ^a   Van Roermund, Carlo W T ^a   Ijlst, Lodewijk ^a   Moser, Ann B ^b   Wanders, Ronald J A ^a   Waterham, Hans R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

ACOX; Acyl CoA oxidase; Beta oxidation; Peroxisome; SCOX; Straight chain acyl CoA oxidase; Very long chain fatty acids

Indexed keywords

ACYL COENZYME A OXIDASE; ISOENZYME; LONG CHAIN FATTY ACID; MEDIUM CHAIN FATTY ACID; RECOMBINANT ENZYME; STRAIGHT CHAIN ACYL COENZYME A OXIDASE; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; FATTY ACID; OXIDOREDUCTASE; PEROXISOMAL ACYL COA OXIDASE; PEROXISOMAL ACYL-COA OXIDASE;

ACOX1 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FATTY ACID OXIDATION; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; NUCLEOTIDE SEQUENCE; PEROXISOMAL ACYL COENZYME A OXIDASE DEFICIENCY; PRIORITY JOURNAL; RNA SPLICING; AMINO ACID SEQUENCE; CELL CULTURE; CHEMISTRY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYMOLOGY; GENETICS; GENOTYPE; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PHENOTYPE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BIOLOGICAL MARKERS; CELLS, CULTURED; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; FIBROBLASTS; GENOTYPE; HUMANS; ISOENZYMES; LIPID METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES; PEROXISOMAL DISORDERS; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 34848897852     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20535     Document Type: Article

References (30)

1. Bell DR, Elcombe CR. 1991. Regulation of differentially spliced transcripts of acyl-CoA oxidase in the rat. Biochim Biophys Acta 1090:211-215.
2. Ferdinandusse S, Denis S, Mooijer PAW, Zhang Z, Reddy JK, Spector AA, Wanders RJA. 2001. Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid. J Lipid Res 42:1987-1995.
3. Ferdinandusse S, Finckh B, de Hingh YC, Stroomer AE, Denis S, Kohlschutter A, Wanders RJ. 2003. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. Mol Genet Metab 79:281-287.
4. Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. 2006. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol 59:92-104.
5. Fournier B, Saudubray JM, Benichou B, Lyonnet S, Munnich A, Clevers H, Poll-The BT. 1994. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. J Clin Invest 94:526-531.
6. Gietz RD, Woods RA. 2002. Transformation of yeast by lithium acetate/single-stranded carrier DNA/polyethylene glycol method. Methods Enzymol 350:87-96.
7. Kurian MA, Ryan S, Besley GT, Wanders RJ, King MD. 2004. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy. J Inherit Metab Dis 27:105-108.
8. Miyazawa S, Hayashi H, Hijikata M, Ishii N, Furuta S, Kagamiyama H, Osumi T, Hashimoto T. 1987. Complete nucleotide sequence of cDNA and predicted amino acid sequence of rat acyl-CoA oxidase. J Biol Chem 262:8131-8137.
9. Morais S, Knoll-Gellida A, Andre M, Barthe C, Babin PJ. 2007. Conserved expression of alternative splicing variants of peroxisomal acyl-CoA oxidase 1 in vertebrates and developmental and nutritional regulation in fish. Physiol Genomics 28:239-252.
10. Nakajima Y, Miyahara I, Hirotsu K, Nishina Y, Shiga K, Setoyama C, Tamaoki H, Miura R. 2002. Three-dimensional structure of the flavoenzyme acyl-CoA oxidase-II from rat liver, the peroxisomal counterpart of mitochondrial acyl-CoA dehydrogenase. J Biochem (Tokyo) 131:365-374.
11. Poll-The BT, Roels F, Ogier H, Scotto J, Vamecq J, Schutgens RB, Wanders RJ, van Roermund CW, van Wijland MJ, Schram AW, Tager JM, Saudubray J-M. 1988. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudoneonatal adrenoleukodystrophy). Am J Hum Genet 42:422-434.
12. Ramakers C, Ruijter JM, Deprez RH, Moorman AF. 2003. Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data. Neurosci Lett 339:62-66.
13. Rosewich H, Waterham HR, Wanders RJ, Ferdinandusse S, Henneke M, Hunneman D, Gartner J. 2006. Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect. Neuropediatrics 37:95-98.
14. Setoyama C, Tamaoki H, Nishina Y, Shiga K, Miura R. 1995. Functional expression of two forms of rat acyl-CoA oxidase and their substrate specificities. Biochem Biophys Res Commun 217:482-487.
15. Su HM, Moser AB, Moser HW, Watkins PA. 2001. Peroxisomal straight-chain acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. J Biol Chem 276:38115-38120.
16. Suzuki Y, Shimozawa N, Yajima S, Tomatsu S, Kondo N, Nakada Y, Akaboshi S, Lai M, Tanabe Y, Hashimoto T, Wanders RJA, Schutgens RBH, Moser HW, Orii T. 1994. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Am J Hum Genet 54:36-43.
17. Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N. 2002. Peroxisomal acyl CoA oxidase deficiency. J Pediatr 140:128-130.
18. van Grunsven EG, van Berkel E, Mooijer PA, Watkins PA, Moser HW, Suzuki Y, Jiang LL, Hashimoto T, Hoefler G, Adamski J, Wanders RJ. 1999. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am J Hum Genet 64:99-107.
19. van Roermund CW, Hettema EH, van den Berg M, Tabak HF, Wanders RJ. 1999. Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p. EMBO J 18:5843-5852.
20. van Veldhoven PP, Casteels M, Mannaerts GP, Baes M. 2001. Further insights into peroxisomal lipid breakdown via alpha- and beta-oxidation. Biochem Soc Trans 29:292-298.
21. Vanhove GF, Van Veldhoven PP, Fransen M, Denis S, Eyssen HJ, Wanders RJ, Mannaerts GP. 1993. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. J Biol Chem 268:10335-10344.
22. Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK. 1994. Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization. Proc Natl Acad Sci USA 91:3107-3111.
23. Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH. 1998. Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry. J Chromatogr B Biomed Sci Appl 713:281-287.
24. Wach A. 1996. PCR-synthesis of marker cassettes with long flanking homology regions for gene disruptions in S. cerevisiae. Yeast 12:259-265.
25. Wanders RJ, Schelen A, Feller N, Schutgens RB, Stellaard F, Jakobs C, Mitulla B, Seidlitz G. 1990. First prenatal diagnosis of acyl-CoA oxidase deficiency. J Inherit Metab Dis 13:371-374.
26. Wanders RJ, Denis S, Ruiter JP, Schutgens RB, van Roermund CW, Jacobs BS. 1995. Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts. J Inherit Metab Dis 18(Suppl 1):113-124.
27. Wanders RJ, Barth PG, Heymans HSA. 2001a. Single peroxisomal enzyme deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Molecular and Metabolic Bases of Inherited Disease. New York: McGraw-Hill. p 3219-3256.
28. Wanders RJ, Vreken P, Ferdinandusse S, Jansen GA, Waterham HR, Van Roermund CW, Van Grunsven EG. 2001b. Peroxisomal fatty acid alpha- and beta-oxidation in humans; enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem Soc Trans 29:250-267.
29. Watkins PA, McGuinness MC, Raymond GV, Hicks BA, Sisk JM, Moser AB, Moser HW. 1995. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann Neurol 38:472-477.
30. Wilson GN, Holmes RG, Custer J, Lipkowitz JL, Stover J, Datta N, Hajra A. 1986. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet 24:69-82.