Peroxisomes and Peroxisomal Disorders

  • Marjo S. van der Knaap
  • Jacob Valk


Peroxisomes are organelles that are present in virtually all human cell types. Their diameter varies between 0.5 and 1.5 μm. Morphologically, peroxisomes are differentiated from mitochondria by their single membrane, electron-dense fine granular and homogeneous matrix and absence of cristae. They can also be differentiated from lysosomes, which often contain vacuoles and various inclusions, and have a positive acid phospatase reaction on histochemistry, whereas peroxisomes are positive in reactions which show the presence of catalase. The size and abundance of peroxisomes and their enzyme content vary considerably. A striking feature of peroxisomes is that their enzymes can be induced and that the whole organelle can proliferate in response to many stimuli including dietary, hormonal and other physiological changes. The most profound proliferations are caused by hypolipidemic drugs. In liver and kidney, peroxisomes are normally present in high numbers, whereas in skin fibroblasts relatively few peroxisomes are present. Peroxisomes are also numerous in cells specialized in lipid metabolism. In the nervous system peroxisomes are more abundant in the early postnatal period than in adults. Oligodendrocytes contain peroxisomes during the period of active myelination and the organelles can be demonstrated in the cellular processes that form the myelin sheath. Peroxisomes are required for the synthesis of essential myelin constituents.


Phytanic Acid Peroxisomal Membrane Pipecolic Acid Peroxisomal Disorder Refsum Disease 
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  1. Bachir Bioukar E, Deschatrette J (1993) Update on genetic and molecular investigations of diseases with general impairment of peroxisomal functions. Biochimie 75: 303–308PubMedCrossRefGoogle Scholar
  2. Balfe A, Hoefler G, Chen WW, Watkins PA (1990) Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. Pediatr Res 27: 304–310PubMedCrossRefGoogle Scholar
  3. Barth PG, Schutgens RBH, Bakkeren JAJM, Dingemans KP, Heymans HSA, Douwes AC, van der Klei-van Moorsel JM (1985) A milder variant of Zellweger syndrome. Eur J Pediatr 144: 338–342CrossRefGoogle Scholar
  4. Beard ME, Moser AB, Sapirstein V, Holtzman E (1986) Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts. J Inherited Metab Dis 9: 321–334PubMedCrossRefGoogle Scholar
  5. Benke PJ, Reyes PF, Parker JC Jr (1981) New form of adrenoleukodystrophy. Hum Genet 58: 204–208PubMedCrossRefGoogle Scholar
  6. Bizzozero OA, Zuniga G, Lees MB (1991) Fatty acid composition of human myelin proteolipid protein in peroxisomal disorders. J Neurochem 56: 872–878PubMedCrossRefGoogle Scholar
  7. Bruhn H, Kruse B, Korenke GC, Hanefeld F, Haenicke W, Merboldt KD, Frahm J (1992) Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders. J Comput Assist Tomogr 16: 335–344PubMedCrossRefGoogle Scholar
  8. Brul S, Westerveld A, Strijland A, Wanders RIA, Schram AW, Heymans HSA, Schutgens RBH, van den Bosch H, Tager JM (1988) Genetic heterogeneity in the cerebrohepatorenal ( Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. J Clin Invest 81: 1710–1715Google Scholar
  9. Sudden SS, Kennaway NG, Buist NRM, Poulos A, Weleber RG (1986) Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr 108: 33–39CrossRefGoogle Scholar
  10. Chow CW, Poulos A, Fellenberg AJ, Christodoulou J, Danks DM (1992) Autopsy findings in two siblings with infantile Refsum disease. Acta Neuropathol (Berl) 83: 190–195CrossRefGoogle Scholar
  11. Clayton PT, Lake BD, Hall NA, Shortland DB, Carruthers RA, Lawson AM (1987) Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography mass spectrometry. Eur J Pediatr 146: 166173Google Scholar
  12. Cohen SMZ, Brown FR, Martyn L, Moser HW, Chen W, Kistenmacher M, Punnettt H, de la Cruz ZC, Chan NH, Green RW (1983) Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome ( Zellweger syndrome) and its relationship to neonatal adrenoleukodystrophy. Am J Ophthalmol 96: 488–501Google Scholar
  13. De Leon GA, Grover WD, Huff DS, Moringo-Meure G, Punnett HH, Kistenmacher ML (1977) Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of Zellweger. Ann Neurol 2: 473–484PubMedCrossRefGoogle Scholar
  14. Dimmick JE, Applegarth DA (1993) Pathology of peroxisomal disorders. Perspect Pediatr Pathol 17: 45–98PubMedGoogle Scholar
  15. Dubois J, Sebag G, Argyropoulou M, Brunelle F (1991) MR findings in infantile Refsum disease: case report of two family members. AJNR 12: 1159–1160PubMedGoogle Scholar
  16. Evrard P, Caviness VS, Prats-Vinas J, Lyon G (1978) The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis based upon cytoarchitectonic analysis. Acta Neuropathol (Berl) 41: 109–117CrossRefGoogle Scholar
  17. Folz SJ, Trobe JD (1991) The peroxisome and the eye. Survey Ophthalmol 35: 353–368CrossRefGoogle Scholar
  18. Gaertner J, Chen WW, Kelly RI, Mihalik SJ, Moser HS (1991) The 22-kD peroxisomal integral membrane protein in Zellweger syndrome–presence, abundance, and association with a peroxisomal thiolase precursor protein. Pediatr Res 29: 141–146CrossRefGoogle Scholar
  19. Gaertner J, Moser H, Valle D (1992) Mutations in the 70 K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet 1: 16–23CrossRefGoogle Scholar
  20. Goldfischer S, Collins J, Rapin I, Schiller C, Chang CH, Nigro M, Black VH, Javitt NB, Moser HW, Lazarow PB (1985) Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. Science 227: 67–70PubMedCrossRefGoogle Scholar
  21. Govaerts L, Sippell WG, Monnens L (1989) Further analysis of the disturbed adrenocortical function in the cerebro-hepato-renal syndrome of Zellweger. J Inherited Metab Dis 12: 423–428PubMedCrossRefGoogle Scholar
  22. Heikoop JC, van den Berg M, Strijland A, Weijers PJ, Just WW, Meijer AJ, Tager JM (1992) Turnover of peroxisomal vesicles by autophagic proteolysis in cultured fibroblasts from Zellweger patients. Eur J Cell Biol 59: 165–171Google Scholar
  23. Hermetter A, Rainer B, Ivessa E, Kalb E, Loidl J, Roscher A, Paltauf F (1989) Influence of plasmalogen deficiency on membrane fluidity of human skin fibroblasts: a fluorescence anisotropy study. Biochim Biophys Acta 978: 151–157PubMedCrossRefGoogle Scholar
  24. Heymans HSA, Schutgens RB, Tan R, van den Bosch H, Borst P (1983) Severe plasmalogen deficiency in tissues of ifants without peroxisomes ( Zellweger syndrome ). Nature 306: 69–70Google Scholar
  25. Holmes RD, Wilson GN, Hajra A (1987) Oral ether lipid therapy in patients with peroxisomal disorders. J Inherited Metab Dis 10 Suppl 21: 239–241CrossRefGoogle Scholar
  26. Holmes RD, Moore KH, Ofenstein JP, Tsatsos P, Kiechle FL (1993) Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. J Inherited Metab Dis 16: 368–380PubMedCrossRefGoogle Scholar
  27. Hughes JL, Poulos A, Robertson E, Chow CW, Sheffield LJ, Christodoulou J, Carter RF (1990) Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. Virchows Arch A 416: 255–264CrossRefGoogle Scholar
  28. Jaffe R, Crumrine P, Hashida Y, Moser HW (1982) Neonatal adrenoleukodystrophy. Clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 108: 100–111Google Scholar
  29. Kase BF, Pedersen JI, Wathne KO, Gustafsson J, Bjorkhem I (1991) Importance of perixomes in the formation of chenodexycholic acid in human liver. Metabolism of 3a,7adihydroxy-5a-cholestanoid acid in Zellweger syndrome. Pediatr Res 29: 64–69PubMedCrossRefGoogle Scholar
  30. Kelley RI (1983) Review:the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. Am J Med Genet 16: 503–517PubMedCrossRefGoogle Scholar
  31. Kelley RI, Datta NA, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackal EH, Moser HW (1986) Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differ-entiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 23: 869–901PubMedCrossRefGoogle Scholar
  32. Kendall B (1992) Disorders of lysosomes, peroxisomes, and mitochondria. AJNR 13: 621–653PubMedGoogle Scholar
  33. Kerckaert I, Dingemans KP, Heymans HSA, Vamecq J, Roels F (1988) Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellwegers, Ref-sums, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy ). J Inherited Metab Dis 11: 372–386Google Scholar
  34. Manz HJ, Schelein M, McCullough DC, Kishimoto Y, Eiben RM (1980) New phenotypic variant of adrenoleukodystrophy. J Neurol Sci 45: 245–260PubMedCrossRefGoogle Scholar
  35. Martinez M (1992) Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders. Brain Res 583: 171–182PubMedCrossRefGoogle Scholar
  36. Martinez M, Pineda M, Vidal R, Conill J, Martin B (1993) Docosahexaenoic acid–a new therapeutic approach to peroxisomal-disorder patients:experience with two cases. Neurology 43: 1389–1397PubMedCrossRefGoogle Scholar
  37. Mei Liu H, Bangaru BS, Kidd J, Boggs J (1976) Neuropathological considerations in cerebro-hepato-renal syndrome (Zellwegers syndrome) Acta Neuropathol (Berl) 34:115123Google Scholar
  38. Mito T, Takada K, Akaboshi S, Takashima S, Takeshita K, Origuchi Y (1989) A pathological study of a peripheral nerve in a case of neonatal adrenleukodystrophy. Acta Neuropathol (Berl) 77: 437–440CrossRefGoogle Scholar
  39. Molzer B, Korschinsky M, Bernheimer H, Schmid R, Wolf C, Roscher A (1986) Very long chain fatty acids in genetic peroxisomal disease fibroblasts:differences between the cerebro-hepato-renal ( Zellweger) syndrome and adrenoleukodystrophy variants. Clin Chim Acta 161: 81–90Google Scholar
  40. Molzer B, Kainz-Korschinsky M, Sundt-Heller R, Bernheimer H (1989) Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders. J Clin Chem Clin Biochem 27: 309–314PubMedGoogle Scholar
  41. Moser HW, Birgin A, Cornbeath D (1991) Peroxisomal disorders. Biochem Cell Biol 69: 463–474PubMedCrossRefGoogle Scholar
  42. Mueller-Hoecker J, Walther JU, Bise K, Pongratz D, Huebner G (1984) Mitochondria) myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. Virchows Arch B 45: 125–138CrossRefGoogle Scholar
  43. Naidu S, Moser HW (1991) Infantile Refsum disease. AJNR 12: 1161–1163PubMedGoogle Scholar
  44. Naidu S, Moser AE, Moser HW (1988) Phenotypic and genotypic variability of generalized peroxisomal disorders. Pediatr Neurol 4: 5–12PubMedCrossRefGoogle Scholar
  45. Ogier H, Roels F, Cornelis A, Poll-The BT, Scotto JM, Oievre M, Saudubray JM (1985) Absence of hepatic peroxisomes in a case of infantile Refsums disease. Scand J Clin Lab Invest 45: 767–768PubMedCrossRefGoogle Scholar
  46. Passarge E, McAdams AJ (1967) Cerebro-hepato-renal syndrome. J Pediatrics 71: 691–702CrossRefGoogle Scholar
  47. Poll-The BT, Poulos A, Sharp P, Boue J, Ogier H, Odievre M, Saudubray JM (1985) Antenatal diagnosis of infantile Ref-sums disease. Clin Genet 27: 524–526PubMedCrossRefGoogle Scholar
  48. Poll-The BT, Ogier H, Saudubray, Schutgens RBH, Wanders RJA, van den Bosch H, Schrakamp G (1986) Impaired plasmalogen metabolism in infantile Refsums disease. Eur J Pediatr 144: 513–514PubMedCrossRefGoogle Scholar
  49. Poll-The BT, Saudubray JM, Rocchiccioli F, Scotto J, Roels F, Boue J, Ogier H, Dumez Y, Wanders RJA, Schutgens RBH, Schram AW, Tager JM (1987) Prenatal diagnosis and confirmation of infantile Refsums disease. J Inherited Metab Dis 10 Supp 21: 229–232CrossRefGoogle Scholar
  50. Poulos A, Singh H, Paton B, Sharp P, Derwas N (1986) Accumulation and defective 3-oxidation of very long chain fatty acids in Zellwegers syndrome, adrenoleukodystrophy and Refsums disease variants. Clin Genet 29: 397–408PubMedCrossRefGoogle Scholar
  51. Poulos A, Sharp P, Johnson D (1989) Plasma polyenoic verylong-chain fatty acids in peroxisomal disease:biochemical discrimination of Zellwegers syndrome from other phenotypes. Neurology 39: 44–47PubMedCrossRefGoogle Scholar
  52. Powers JM, Tummons RC, Caviness VS, Moser AB, Moser HW (1989) Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal ( Zellweger) syndrome. J Neuropathol Exp Neurol 48: 270–289Google Scholar
  53. Raafat F, Smith K, Halloran EA, Lacy D (1991) Zellweger syndrome: a histochemical diagnosis of two cases. Pediatr Pathol 11: 413–420PubMedCrossRefGoogle Scholar
  54. Reubsaet FAG, Bruckwilder MLP, Veerkamp JH, Trijbels JMF, Hashimoto T, Monnens LAH (1991) Immunochemical analysis of the peroxisomal 13.-oxidation enzymes in rat and human heart and skeletal muscle and in skeletal muscle of Zellweger patients. Biochem Med Metab Biol 45: 197–203PubMedCrossRefGoogle Scholar
  55. Robertson EF, Poulos A, Sharp P, Manson J, Wise G, Jaunzems A, Carter R (1988) Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years. Eur J Pediatr 147: 133–142PubMedCrossRefGoogle Scholar
  56. Roels F, Cornelis A, Poll-The BT, Aubourg P, Ogier H, Scotto J, Saudubray JM (1986) Hepatic peroxisomes are deficient in infantile Refsum disease:a cytochemical study of 4 cases. Am J Med Genet 25: 257–271PubMedCrossRefGoogle Scholar
  57. Roels F, Espeel M, de Craemer D (1991) Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review. J Inherited Metab Dis 14: 853–875PubMedCrossRefGoogle Scholar
  58. Roels F, Espeel M, Poggi F, Mandel H, van Maldergem L, Saudubray JM (1993) Human liver pathology in peroxisomal diseases: a review including novel data. Biochimie 75: 281–292PubMedCrossRefGoogle Scholar
  59. Roscher AA, Hoefler S, Hoefler G, Paschke E, Paltauf F, Moser A, Moser H (1989) Genetic and phenotypic heterogeneity in disorders of peroxisme biogenesis–a complementation study involving cell lines from 19 patients. Pediatr Res 6: 67–72CrossRefGoogle Scholar
  60. Santos MJ, Imanaka T, Shio H, Small GM, Lazarow PB (1988) Peroxisomal membrane ghosts in Zellweger syndrome–abberant organelle assembly. Science 239: 1536–1538PubMedCrossRefGoogle Scholar
  61. Sarnat HB, Trevenen CL, Darwish HZ (1993) Ependymal abnormalities in cerebro-hepato-renal disease of Zellweger. Brain Dev 15: 270–277PubMedCrossRefGoogle Scholar
  62. Schram AW, Strijland A, Hashimoto T, Wanders RJA, Schutgens RBH, van den Bosch H, Tager JM (1986) Biosynthesis and maturation of peroxisomal 3-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. Proc Natl Acad Sci U S A 83: 6156–6158PubMedCrossRefGoogle Scholar
  63. Schutgens RBH, Wanders RJA, Heymans HSA, Schram AW, Tager JM, Schrakamp G, van den Bosch H (1987) Zellweger syndrome:biochemical procedures in diagnosis, prevention and treatment. J Inherited Metab Dis 10: 33–45PubMedCrossRefGoogle Scholar
  64. Schutgens RBH, Schrakamp G, Wanders RJA, Heymans HSA, Tager JM, van den Bosch H (1989) Prenatal and perinatal diagnosis of peroxisomal disorders. J Inherited Metab Dis 12 Supp 11: 118–134CrossRefGoogle Scholar
  65. Schutgens RBH, Wanders RJA, Jakobs C, Arslan-Kirchner M, Miller K, Wieacker P, Hunnemann D, Hurter P, von Schutz M (1994) A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts. J Inherited Metab Dis 17: 319–322PubMedCrossRefGoogle Scholar
  66. Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P (1982) Infantile phytanic acid storage disease, a possible variant of Refsums disease: three cases, including ultrastructural studies of the liver. J Inherited Metab Dis 5: 83–90PubMedCrossRefGoogle Scholar
  67. Sharp P, Johnson D, Poulos A (1991) Molecular species of phosphatidylcholine containing very long chain fatty acids in human brain:enrichment in X-linked adrenoleukodystrophy brain and diseases of peroxisome biogenesis brain. J Neurochem 56: 30–37PubMedCrossRefGoogle Scholar
  68. Shimozawa N, Taukamoto T, Suzuki Y, Orii T, Fujki Y (1992a) Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. J Clin Invest 90: 1864–1870PubMedCrossRefGoogle Scholar
  69. Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y (1992b) A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255: 1132–1134PubMedCrossRefGoogle Scholar
  70. Shimozawa N, Suzuki Y, Orii T, Tsukamoto T, Fujki Y (1993) Prenatal diagnosis of Zellweger syndrome using DNA analysis. Prenat Diagn 13: 149PubMedCrossRefGoogle Scholar
  71. Small GM, Santos MJ, Imanaka T, Poulos A, Danks DM, Moser HW, Lazarow PB (1988) Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsums disease and X-linked adrenoleukodystrophy. J Inherited Metab Dis 11: 358–371PubMedCrossRefGoogle Scholar
  72. Taukamoto T, Miura S, Fujiki Y (1991) Restoration by a 35 K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. Nature 350: 77–81CrossRefGoogle Scholar
  73. Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke 0 (1988) Infantile Refsums disease: a generalized peroxisomal disorder. Case report with postmortem examination. J Neurol Sci 85: 39–53Google Scholar
  74. Trijbels JMF, Berden JA, Monnens LAH, Willems JL, Janssen AJM, Schutgens RBH, van den Broek-van Essen M (1983) Biochemical studies in the liver and muscle of patients with Zellweger syndrome. Pediatr Res 17: 514–517Google Scholar
  75. Vamecq J, Draye JP, van Hoof F, Misson JP, Evrard P, Verellen G, Eyssen HJ, van Eldere J, Schutgens RH, Wanders RJA, Roels F, Goldfischer SL (1986) Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. Am J Pathol 125: 524–535Google Scholar
  76. Van der Knaap MS, Valk J (1991) The MR spectrum of peroxisomal disorders. Neuroradiology 33: 30–37PubMedCrossRefGoogle Scholar
  77. Van Roermund CWT, Brul S, Tager JM, Schutgens RBH, Wanders RJA (1991) Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndrome. J Inherited Metab Dis 14: 152–164PubMedCrossRefGoogle Scholar
  78. Volpe JJ, Adams RD (1972) Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Berl) 20: 175–198CrossRefGoogle Scholar
  79. Wanders RJA, Schutgens RBH, Schrakamp G, van den Bosch H, Tager JM, Schram AW, Hashimoto T, Poll-The BT, Saudubray JM (1986) Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthases and peroxisomal 3-oxidation enzyme proteins. Eur J Pediatr 145: 172–175PubMedCrossRefGoogle Scholar
  80. Wanders RJA, Schutgens RBH, Schrakamp G, van den Bosch H, Tager JM, Moser AB, Moser HW (1987) Generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy: implications for pre-and postnatal detection and relationship to X-linked adrenoleukodystrophy. J Inherited Metab Dis 10 Suppl 2: 225–228CrossRefGoogle Scholar
  81. Wanders RJA, van Roermund CWT, van Wijland MJA, Heikoop J, Schutgens RBH, Schram AW, Tager JM, van den Bosch H, Poll-The BT, Saudubray JM, Moser HW, Moser AB (1987) Peroxisomal very long-chain fatty acid 13-oxidation in human skin fibroblasts:activity in Zellweger syndrome and other peroxisomal disorders. Clin Chim Acta 166: 255–263PubMedCrossRefGoogle Scholar
  82. Wanders RIA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM (1988a) Peroxisomal disorders in neurology. J Neurol Sci 88: 1–39PubMedCrossRefGoogle Scholar
  83. Wanders RIA, Heymans HSA, Schutgens RBH, Poll-The BT, Saudubray JM, Tager IM, Schrakamp G, van den Bosch H (1988b) Peroxisomal functions in classical Refsums disease: comparison with the infantile form of Refsums disease. J Neurol Sci 84: 147–155PubMedCrossRefGoogle Scholar
  84. Wanders RJA, van Roermund CWT, Schutgens RBH, Barth PG, Heymans HSA, van den Bosch H, Tager JM (1990a) The inborn errors of peroxisomal 3-oxidation: a review. J Inherited Metab Dis 13: 4–36PubMedCrossRefGoogle Scholar
  85. Wanders RIA, Boltshauser E, Steinmann B, Spycher MA, Schutgens RBH, Bosch van den H, Tager JM (1990b) Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report. J Neurol Sci 98: 1–11PubMedCrossRefGoogle Scholar
  86. Wanders RIA, Schutgens RBH, van den Bosch H, Tager IM, Kleijer WI (1991a) Prenatal diagnosis of inborn errors in peroxisomal 3-oxidation. Prenat Diagn 11: 253–261PubMedCrossRefGoogle Scholar
  87. Wanders RIA, van Roermund CWT, Jakobs C, ten Brink HI (1991b) Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver:implications for Zellweger syndrome. J Inherited Metab Dis 14: 349–352PubMedCrossRefGoogle Scholar
  88. Wanders RJA, Schutgens RBH, Barth PG, Tager JM, van den Bosch H (1993) Postnatal diagnosis of peroxisomal disorders:a biochemical approach. Biochimie 75: 269–279PubMedCrossRefGoogle Scholar
  89. Wiemer EAC, Out M, Schelen A, Wanders RIA, Schutgens RBH, van den Bosch H, Tager IM (1991) Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group. Biochim Biophys Acta 1097: 232–237PubMedCrossRefGoogle Scholar
  90. 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: 69–82PubMedCrossRefGoogle Scholar
  91. Wilson GN, Holmes RD, Hajra AK (1988) Peroxisomal disorders:clinical commentary and future prospects. Am J Med Genet 30: 771–792PubMedCrossRefGoogle Scholar
  92. Wolff I, Nyhan WL, Powell H, Takahashi D, Hutzler J, Hajra AK, Datta NS, Singh I, Moser HW (1986) Myopathy in an infant with a fatal peroxisomal disorder. Pediatr Neurol 2: 141–146PubMedCrossRefGoogle Scholar
  93. Zellweger H (1987) The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. Dev Med Child Neurol 29: 821–829PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

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