Peroxisomal disorders: The single peroxisomal enzyme deficiencies

Biochimica et Biophysica Acta - Molecular Cell Research

Volumn 1763, Issue 12, 2006, Pages 1707-1720

  Wanders, Ronald J A ^a   Waterham, Hans R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Adrenoleukodystrophy; Alpha oxidation; Beta oxidation; Hyperoxaluria; Peroxisomes; Plasmalogen; Refsum disease; Zellweger syndrome

Indexed keywords

BIOGENESIS; BIOSYNTHESIS; DETOXIFICATION; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; NONHUMAN; OXIDATION; PEROXISOME; PRIORITY JOURNAL; REVIEW;

FATTY ACIDS; GLYOXYLATES; HUMANS; HYDROGEN PEROXIDE; OXIDATION-REDUCTION; PEROXISOMAL DISORDERS; PEROXISOMES; PLASMALOGENS;

EID: 33845304296     PISSN: 01674889     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbamcr.2006.08.010     Document Type: Review

References (88)

1. Barr D.G., Kirk J.M., al Howasi M., Wanders R.J.A., and Schutgens R.B.H. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Arch. Dis. Child. 68 (1993) 415
2. Bezman L., Moser A.B., Raymond G.V., Rinaldo P., Watkins P.A., Smith K.D., Kass N.E., and Moser H.W. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann. Neurol. 49 (2001) 512
3. Biermann J., Just W.W., Wanders R.J.A., and van den Bosch H. Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes. Eur. J. Biochem. 261 (1999) 492
4. Braverman N., Chen L., Lin P., Obie C., Steel G., Douglas P., Chakraborty P.K., Clarke J.T., Boneh A., Moser A., Moser H., and Valle D. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum. Mutat. 20 (2002) 284
5. Brites P., Waterham H.R., and Wanders R.J.A. Functions and biosynthesis of plasmalogens in health and disease. Biochim. Biophys. Acta 1636 (2004) 219
6. Christensen E., Pedersen S.A., Leth H., Jakobs C., Schutgens R.B.H., and Wanders R.J.A. A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids. J. Inherited Metab. Dis. 20 (1997) 658
7. Clarke C.E., Alger S., Preece M.A., Burdon M.A., Chavda S., Denis S., Ferdinandusse S., and Wanders R.J.A. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. Neurology 63 (2004) 188
8. Clayton P.T., Eckhardt S., Wilson J., Hall C.M., Yousuf Y., Wanders R.J.A., and Schutgens R.B.H. Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. J. Inherited Metab. Dis. 17 (1994) 533
9. Clayton P.T., Lake B.D., Hjelm M., Stephenson J.B., Besley G.T., Wanders R.J.A., Schram A.W., Tager J.M., Schutgens R.B.H., and Lawson A.M. Bile acid analyses in "pseudo-Zellweger" syndrome: clues to the defect in peroxisomal beta-oxidation. J. Inherited Metab. Dis. 11 Suppl. 2 (1988) 165
10. de Vet E.C., IJlst L., Oostheim W., Dekker C., Moser H.W., van den Bosch H., and Wanders R.J.A. Ether lipid biosynthesis. Alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. J. Lipid Res. 40 (1999) 1998
11. de Vet E.C., IJlst L., Oostheim W., Wanders R.J.A., and van den Bosch H. Alkyl-dihydroxyacetonephosphate synthase: fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. J. Biol. Chem. 273 (1998) 10296
12. Dieuaide-Noubhani M., Asselberghs S., Mannaerts G.P., and Van Veldhoven P.P. Evidence that multifunctional protein 2, and not multifunctional protein 1, is involved in the peroxisomal beta-oxidation of pristanic acid. Biochem. J. 325 (1997) 367
13. Dieuaide-Noubhani M., Novikov D., Baumgart E., Vanhooren J.C., Fransen M., Goethals M., Vandekerckhove J., Van Veldhoven P.P., and Mannaerts G.P. Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver. Relationship between the different 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 (1996) 660
14. Dieuaide-Noubhani M., Novikov D., Vandekerckhove J., Veldhoven P.P., and Mannaerts G.P. Identification and characterization of the 2-enoyl-CoA hydratases involved in peroxisomal beta-oxidation in rat liver. Biochem. J. 321 (1997) 253
15. Elias E.R., Mobassaleh M., Hajra A.K., and Moser A.B. Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am. J. Med. Genet. 80 (1998) 223
16. Espeel M., Roels F., Van Maldergem L., De Craemer D., Dacremont G., Wanders R.J.A., and Hashimoto T. Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidney. Virchows Arch. A: Pathol. Anat. Histopathol. 419 (1991) 301
17. Ferdinandusse S., Denis S., Clayton P.T., Graham A., Rees J.E., Allen J.T., Mclean B.N., Brown A.Y., Vreken P., Waterham H.R., and Wanders R.J.A. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat. Genet. 24 (2000) 188
18. Ferdinandusse S., Denis S., Mooijer P.A., Zhang Z., Reddy J.K., Spector A.A., and Wanders R.J.A. Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid. J. Lipid Res. 42 (2001) 1987
19. Ferdinandusse S., Denis S., Mooyer P.A., Dekker C., Duran M., Soorani-Lunsing R.J., Boltshauser E., Macaya A., Gartner J., Majoie C.B., Barth P.G., Wanders R.J., and Poll-The B.T. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann. Neurol. 59 (2006) 92
20. Ferdinandusse S., Denis S., van Roermund C.W.T., Wanders R.J.A., and Dacremont G. Identification of the peroxisomal {beta}-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. J. Lipid Res. 45 (2004) 1104
21. Ferdinandusse S., Kostopoulos P., Denis S., Rusch H., Overmars H., Dillmann U., Reith W., Haas D., Wanders R.J.A., Duran M., and Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cauise leukencephalopathy with dystonia and motor neuropathy. J. Lipid Res. 45 (2004) 1104
22. Ferdinandusse S., Overmars H., Denis S., Waterham H.R., Wanders R.J.A., and Vreken P. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. J. Lipid Res. 42 (2001) 137
23. Ferdinandusse S., Rusch H., van Lint A.E., Dacremont G., Wanders R.J.A., and Vreken P. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. J. Lipid Res. 43 (2002) 438
24. Ferdinandusse S., van Grunsven E.G., Oostheim W., Denis S., Hogenhout E.M., IJlst L., van Roermund C.W., Waterham H.R., Goldfischer S., and Wanders R.J.A. Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of D-Bifunctional Protein. Am. J. Hum. Genet. 70 (2002) 1589
25. Ferdinandusse S., Ylianttila M.S., Gloerich J., Koski M.K., Oostheim W., Waterham H.R., Hiltunen J.K., Wanders R.J.A., and Glumoff T. Mutational spectrum of D-bifunctional protein deficiency and structure based genotype-phenotype analysis. Am. J. Hum. Genet. 78 (2006) 112
26. Foulon V., Antonenkov V.D., Croes K., Waelkens E., Mannaerts G.P., Van Veldhoven P.P., and Casteels M. Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 10039
27. Fournier B., Saudubray J.M., Benichou B., Lyonnet S., Munnich A., Clevers H., and Poll-The B.T. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. J. Clin. Invest. 94 (1994) 526
28. Goldfischer S., Collins J., Rapin I., Neumann P., Neglia W., Spiro A.J., Ishii T., Roels F., Vamecq J., and Van Hoof F. Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. J. Pediatr. 108 (1986) 25
29. Guimaraes C.P., Domingues P., Aubourg P., Fouquet F., Pujol A., Jimenez-Sanchez G., Sa-Miranda C., and Azevedo J.E. Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo. Biochim. Biophys. Acta 1689 (2004) 235
30. Hettema E.H., van Roermund C.W.T., Distel B., van den Berg M., Vilela C., Rodrigues-Pousada C., Wanders R.J.A., and Tabak H.F. The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae. EMBO J. 15 (1996) 3813
31. Heymans H.S.A., Oorthuys J.W., Nelck G., Wanders R.J.A., and Schutgens R.B.H. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N. Engl. J. Med. 313 (1985) 187
32. Hogenboom S., Tuyp J.J.M., Espeel M., Koster J., Wanders R.J.A., and Waterham H.R. Mevalonate kinase is a cytosolic enzyme in humans. J. Cell Sci. 117 (2004) 631
33. Jiang L.L., Kurosawa T., Sato M., Suzuki Y., and Hashimoto T. Physiological role of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. J. Biochem. (Tokyo) 121 (1997) 506
34. Jiang L.L., Miyazawa S., and Hashimoto T. Purification and properties of rat D-3-hydroxyacyl-CoA dehydratase: D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. J. Biochem. (Tokyo) 120 (1996) 633
35. Kemp S., Pujol A., Waterham H.R., van Geel B.M., Boehm C.D., Raymond G.V., Cutting G.R., Wanders R.J.A., and Moser H.W. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum. Mutat. 18 (2001) 499
36. Kretzer F.L., Hittner H.M., and Mehta R. Ocular manifestations of Conradi and Zellweger syndromes. Metab. Pediatr. Ophthalmol. 5 (1981) 1
37. Kurian M.A., Ryan S., Besley G.T.N., Wanders R.J.A., and King M.D. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy. J. Inherited Metab. Dis. 27 (2004) 105
38. Mandel H., Berant M., Aizin A., Gershony R., Hemmli S., Schutgens R.B.H., and Wanders R.J.A. Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids. J. Inherited Metab. Dis. 15 (1992) 381
39. McGuinness M.C., Lu J.F., Zhang H.P., Dong G.X., Heinzer A.K., Watkins P.A., Powers J., and Smith K.D. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol. Cell. Biol. 23 (2003) 744
40. McGuinness M.C., Zhang H.P., and Smith K.D. Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy. Mol. Genet. Metab. 74 (2001) 256
41. Miyazawa S., Osumi T., and Hashimoto T. The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes. Eur. J. Biochem. 103 (1980) 589
42. Moser A.B., Rasmussen M., Naidu S., Watkins P.A., McGuinness M., Hajra A.K., Chen G., Raymond G., Liu A., Gordon D., Garnaas K., Walton D.S., Skjeldal O.H., Guggenheim M.A., Jackson L.G., Elias E.R., and Moser H.W. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediatr. 127 (1995) 13
43. Moser H.W., Moser A.B., Frayer K.K., Chen W., Schulman J.D., O'Neill B.P., and Kishimoto Y. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 31 (1981) 1241
44. Moser H.W., Moser A.B., Kawamura N., Murphy J., Suzuki K., Schaumburg H., and Kishimoto Y. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann. Neurol. 7 (1980) 542
45. Moser H.W., Smith K.D., Watkins P.A., Powers J., and Moser A.B. X-Linked Adrenoleukodystrophy. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), Mc Graw-Hill, New York 3257-3301
46. Mosser J., Douar A.M., Sarde C.O., Kioschis P., Feil R., Moser H., Poustka A.M., Mandel J.L., and Aubourg P. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361 (1993) 726
47. Motley A.M., Brites P., Gerez L., Hogenhout E.M., Haasjes J., Benne R., Tabak H.F., Wanders R.J.A., and Waterham H.R. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am. J. Hum. Genet. 70 (2002) 612
48. Naidu S., Hoefler G., Watkins P.A., Chen W.W., Moser A.B., Hoefler S., Rance N.E., Powers J.M., Beard M., Green W.R., et al. Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. Neurology 38 (1988) 1100
49. Oezen I., Rossmanith W., Forss-Petter S., Kemp S., Voigtlander T., Moser-Thier K., Wanders R.J.A., Bittner R.E., and Berger J. Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum. Mol. Genet. 14 (2005) 1127
50. Ofman R., Hettema E.H., Hogenhout E.M., Caruso U., Muijsers A.O., and Wanders R.J.A. Acyl-CoA-dihydroxyacetonephosphate acyltransferase-cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum. Mol. Genet. 7 (1998) 847
51. Poll-The B.T., Roels F., Ogier H., Scotto J., Vamecq J., Schutgens R.B.H., Wanders R.J.A., van Roermund C.W.T., van Wijland M.J., Schram A.W., Tager J.M., and Saudubray J.M. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am. J. Hum. Genet. 42 (1988) 422
52. Qin Y.M., Haapalainen A.M., Conry D., Cuebas D.A., Hiltunen J.K., and Novikov D.K. Recombinant 2-enoyl-CoA hydratase derived from rat peroxisomal multifunctional enzyme 2: role of the hydratase reaction in bile acid synthesis. Biochem. J. 328 (1997) 377
53. Qin Y.M., Poutanen M.H., Helander H.M., Kvist A.P., Siivari K.M., Schmitz W., Conzelmann E., Hellman U., and Hiltunen J.K. Peroxisomal multifunctional enzyme of beta-oxidation metabolizing D-3-hydroxyacyl-CoA esters in rat liver: molecular cloning, expression and characterization. Biochem. J. 321 (1997) 21
54. Refsum S. Heredopathia atactica polyneuritiformis. Acta Psychiatr. Scand., Suppl. 38 (1946) 1
55. Rosewich H., Waterham H.R., Wanders R.J.A., Ferdinandusse S., Henneke M., Hunneman D., and Gartner J. Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect. Neuropediatrics 37 (2006) 95
56. Schmitz W., Albers C., Fingerhut R., and Conzelmann E. Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. Eur. J. Biochem. 231 (1995) 815
57. Schmitz W., and Conzelmann E. Stereochemistry of peroxisomal and mitochondrial beta-oxidation of alpha-methylacyl-CoAs. Eur. J. Biochem. 244 (1997) 434
58. Schmitz W., Helander H.M., Hiltunen J.K., and Conzelmann E. Molecular cloning of cDNA species for rat and mouse liver alpha- methylacyl-CoA racemases. Biochem. J. 326 (1997) 883
59. Seedorf U., Brysch P., Engel T., Schrage K., and Assmann G. Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity. J. Biol. Chem. 269 (1994) 21277
60. Setchell K.D., Heubi J.E., Bove K.E., O'Connell N.C., Brewsaugh T., Steinberg S.J., Moser A., and Squires Jr. R.H. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology 124 (2003) 217
61. Shani N., Sapag A., and Valle D. Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter. J. Biol. Chem. 271 (1996) 8725
62. Shani N., and Valle D. A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters. Proc. Natl. Acad. Sci. U. S. A. 93 (1996) 11901
63. Shani N., Watkins P.A., and Valle D. PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene. Proc. Natl. Acad. Sci. U. S. A. 92 (1995) 6012
64. Shimozawa N., Tsukamoto T., Nagase T., Takemoto Y., Koyama N., Suzuki Y., Komori M., Osumi T., Jeannette G., Wanders R.J.A., and Kondo N. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Hum. Mutat. 23 (2004) 552
65. Sprecher H., Luthria D.L., Mohammed B.S., and Baykousheva S.P. Reevaluation of the pathways for the biosynthesis of polyunsaturated fatty acids. J. Lipid Res. 36 (1995) 2471
66. Suzuki Y., Iai M., Kamei A., Tanabe Y., Chida S., Yamaguchi S., Zhang Z., Takemoto Y., Shimozawa N., and Kondo N. Peroxisomal acyl CoA oxidase deficiency. J. Pediatr. 140 (2002) 128
67. Suzuki Y., Jiang L.L., Souri M., Miyazawa S., Fukuda S., Zhang Z., Une M., Shimozawa N., Kondo N., Orii T., and Hashimoto T. D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. Am. J. Hum. Genet. 61 (1997) 1153
68. Suzuki Y., Shimozawa N., Yajima S., Tomatsu S., Kondo N., Nakada Y., Akaboshi S., Lai M., Tanabe Y., Hashimoto T., Wanders R.J.A., Schutgens R.B.H., Moser H.W., and Orii T. 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 (1994) 36
69. Swartzman E.E., Viswanathan M.N., and Thorner J. The PAL1 gene product is a peroxisomal ATP-binding cassette transporter in the yeast Saccharomyces cerevisiae. J. Cell Biol. 132 (1996) 549
70. Sztriha L., Al Gazali L.I., Wanders R.J.A., Ofman R., Nork M., and Lestringant G.G. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev. Med. Child Neurol. 42 (2000) 492
71. Sztriha L.S., Nork M.P., Abdulrazzaq Y.M., al-Gazali L.I., and Bakalinova D.B. Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency. Pediatr. Neurol. 16 (1997) 232
72. van Grunsven E.G., Mooijer P.A.W., Aubourg P., and Wanders R.J.A. Enoyl-CoA hydratase deficiency: identification of an new type of D-bifunctional protein deficiency. Hum. Mol. Genet. 8 (1999) 1509
73. van Grunsven E.G., van Berkel E., IJlst L., Vreken P., de Klerk J.B., Adamski J., Lemonde H., Clayton P.T., Cuebas D.A., and Wanders R.J.A. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 2128
74. Van Maldergem L., Espeel M., Wanders R.J.A., Roels F., Gerard P., Scalais E., Mannaerts G.P., Casteels M., and Gillerot Y. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation. Neuromuscul. Disord. 2 (1992) 217
75. Van Veldhoven P.P., Meyhi E., Squires R.H., Fransen M., Fournier B., Brys V., Bennett M.J., and Mannaerts G.P. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur. J. Clin. Invest. 31 (2001) 714
76. van Woerden C.S., Groothoff J.W., Wijburg F.A., Annink C., Wanders R.J.A., and Waterham H.R. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int. 66 (2004) 746
77. Vanhole C., de Zegher F., Casaer P., Devlieger H., Wanders R.J.A., Vanhove G., and Jaeken J. A new peroxisomal disorder with fetal and neonatal adrenal insufficiency. Arch. Dis. Child., Fetal Neonatal Ed. 71 (1994) F55
78. Vanhove G.F., Van Veldhoven P.P., Fransen M., Denis S., Eyssen H.J., Wanders R.J.A., and Mannaerts G.P. 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 (1993) 10335
79. Wanders R.J.A. Metabolic and molecular basis of peroxisomal disorders: A review. Am. J. Med. Genet. 126A (2004) 355
80. Wanders R.J.A., Dekker C., Horvath V.A., Schutgens R.B.H., Tager J.M., Van Laer P., and Lecoutere D. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. J. Inherited Metab. Dis. 17 (1994) 315
81. Wanders R.J.A., Schelen A., Feller N., Schutgens R.B.H., Stellaard F., Jakobs C., Mitulla B., and Seidlitz G. First prenatal diagnosis of acyl-CoA oxidase deficiency. J. Inherited Metab. Dis. 13 (1990) 371
82. Wanders R.J.A., Schumacher H., Heikoop J., Schutgens R.B.H., and Tager J.M. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. J. Inherited Metab. Dis. 15 (1992) 389
83. Wanders R.J.A., Schutgens R.B.H., and Barth P.G. Peroxisomal disorders: a review. J. Neuropathol. Exp. Neurol. 54 (1995) 726
84. Wanders R.J.A., van Roermund C.W.T., Schelen A., Schutgens R.B.H., Tager J.M., Stephenson J.B., and Clayton P.T. A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities. J. Inherited Metab. Dis. 13 (1990) 375
85. Wanders R.J.A., and Waterham H.R. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin. Genet. 67 (2005) 107
86. Watkins P.A., Chen W.W., Harris C.J., Hoefler G., Hoefler S., Blake Jr. D.C., Balfe A., Kelley R.I., Moser A.B., and Beard M.E. Peroxisomal bifunctional enzyme deficiency. J. Clin. Invest. 83 (1989) 771
87. Watkins P.A., McGuinness M.C., Raymond G.V., Hicks B.A., Sisk J.M., Moser A.B., and Moser H.W. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann. Neurol. 38 (1995) 472
88. Wierzbicki A.S., Lloyd M.D., Schofield C.J., Feher M.D., and Gibberd F.B. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J. Neurochem. 80 (2002) 727