Peroxisomal disorders: A newly recognised group of genetic diseases

R. B. H. Schutgens1, H. S. A. Heymans1, Ronald J. A. Wanders1, H. van den Bosch2, J. M. Tager3
1Department of Pediatrics, University Hospital Amsterdam, Amsterdam, The Netherlands
2Laboratory of Biochemistry, State University, Utrecht, The Netherlands
3Laboratory of Biochemistry, University of Amsterdam, The Netherlands.

Tóm tắt

Từ khóa


Tài liệu tham khảo

Aebi HE, Wyss SR (1978) Acatalasemia. In: Stanbury JB, Wijngaarden JB, Frederickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1792?1802

Arias JA, Moser AB, Goldfischer SL (1985) Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders. J Cell Biol 100:1789?1792

Aubourgh P, Robain O, Rocchiccioli F, Dancea S, Scotto J (1985) The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci 69:9?25

Bakkeren JAJM, Monnens LAH, Trijbels JMF, Maas JM (1984) Serum very long chain fatty acid pattern in Zellweger syndrome. Clin Chim Acta 138:325?331

Benke PJ, Reyes PF, Parker JC Jr (1981) New form of adrenoleukodystrophy. Hum Genet 58:204?208

Böck P, Kramar R, Pavelska M (eds) (1980) Peroxisomes and related particles in animal tissues. Cell Biology Monographs, vol 71. Springer Verlag, Wien New York

Boué J, Oberle I, Heilig R, Mandel JL, Moser A, Moser H, Larsen JW Jr, Dumez Y, Boué A (1985) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Hum Genet 69:272?274

Bowen P, Lee CSN, Zellweger H, Lindenberg R (1964) A famililal syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114:402?414

Bremer J (1977) Carnitine and its role in fatty acid metabolism. Trends Biochem Sci 2:207?209

Burton BK, Reeds SP, Remy WT (1983) Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings. J Pediatr 99:729?734

Callahan JW, Lowden JA (eds) (1981) Lysosomes and lysosomal storage diseases. Raven Press, New York

Challa VR, Geisinger KR, Burton BK (1983) Pathologic alterations in brain and liver in hyperpipecolic acidemia. J Neuropathol Exp Neurol 42:627?638

Datta NS, Hajra AK (1984) Does microsomal glycerophosphate acyltransferase catalyze the acylation of dihydroxyacetone phosphate. FEBS Lett 176:264?268

Datta NS, Wilson GN, Hajra A (1984) Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. N Engl J Med 311:1080?1083

De Duve C (1969) The peroxisome: a new cytoplasmic organelle. Proc R Soc Lond [Biol] 173:71?83

De Duve C (1983) Microbodies in the living cell. Sci Am May issue:52?62

De Duve C, Baudhuin P (1966) Peroxisomes (microbodies and related particles). Physiol Rev 46:323?357

De Duve C, Beaufay H, Jacques P, Rahman-Li Y, Sellinger OZ, Wattiaux R, de Coninck S (1960) Intracellular localization of catalase and of some oxidases in rat liver. Biochim Biophys Acta 40:186?187

Duyn van MA, Moser AE, Brown FR III, Sacktor N, Liu A, Moser HW (1984) The design of a diet restricted in saturated very long-chain fatty-acids: therapeutic application in adrenoleukodystrophy. Am J Clin Nutr 40:277?284

Eyssen H, Parmentier G, Compernolle F, Boon K, Eggermont E (1972) Trihydroxycoprostanoic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies. Biochim Biophys Acta 273:212?221

Fujiki Y, Rachubinski RA, Lazarow PB (1984) Synthesis of a major integral membrane polypeptide of rat liver peroxisomes on free polysomes. Proc Natl Acad Sci USA 81:7127?7131

Fujiki Y, Rachubinski RA, Mortensen RM, Lazarow PB (1985) Synthesis of 3-ketoacyl-CoA thiolase of rat liver peroxisomes on free polyribosomes as a larger precursor. Induction of thiolase mRNA activity by clofibrate. Biochem J 226:697?704

Furuta S, Hashimoto T, Miura S, Mori M, Tatibana M (1982) Cell-free synthesis of the enzymes of peroxisomal ?-oxidation. Biochem Biophys Res Commun 195:639?646

Gatfield PD, Taller E, Hinton GG, Wallace AC, Abelnous GM, Haust MD (1968) Hyperpipecolatemia: a new metabolic disorder associated with neuropathy and hepatomegaly. Can Med Assoc J 99:1215?1233

Gilbert EF, Optiz JM, Spranger JW, Langer LO Jr, Wolfson JJ, Wiseskul C (1976) Chondrodysplasia punctata-rhizomelic form: pathologic and radiologic studies of three infants. Eur J Pediatr 123:89?109

Goldfischer S, Reddy JK (1984) Peroxisomes (microbodies) in cell pathology. Int Rev Exp Pathol 26:45?84

Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, Ritch RH, Norton WT, Rapin I, Gartner LM (1973) Peroxisomal and mitochondrial defects in the cerebrohepatorenal syndrome. Science 182:62?64

Goldfischer S, Powers JM, Johnson AB, Axe S, Brown FR III, Moser HW (1983) Striated adrenocortical cells in cerebrohepatorenal (Zellweger) syndrome. Virchows Arch [Pathol Anat] 401:355?361

Goldfischer S, Collins J, Rapin I, Coltoff-Schiller B, Chang C-H, Nigro M, Black VH, Javitt NB, Moser HW, Lazarow PB (1985) Peroxisomal defects in neonatal onset and X-linked adrenoleukodystrophy. Science 227:67?70

Goldman BM, Blobel G (1978) Biogenesis of peroxisomes: intracellular site of synthesis of catalase and uricase. Proc Natl Acad Sci USA 75:5066?5070

Govaerts L (1984) The cerebro-hepato-renal syndrome of Zellweger. PhD Thesis, University of Nijmegen

Govaerts L, Monnens L, Tegelaers W, Trijbels F, van Raay-Selten A (1982) Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients. Eur J Pediatr 139:125?128

Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L (1977) Adrenomyelopathy: a probable variant of adrenoleukodystrophy. Neurology (Minneap) 27:1107?1113

Hack WWM, Derksen-Samson JF, Grimberg RThTh, van der Harten JJ (1984) Chondrodysplasia punctata. T. Kindergeneeskd 52:16?23

Hagey LR, Krisans SK (1982) Degradation of cholesterol to propionic acid by rat liver peroxisomes. Biochem Biophys Res Commun 107:834?841

Hajra AK, Bishop JE (1982) Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway. Ann NY Acad Sci 386:170?182

Hajra AK, Burke CL, Jones CL (1979) Subcellular localization of acylcoenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies). J Biol Chem 254:10896?10900

Hajra AK, Datta NS, Jackson LG, Moser AB, Moser HW, Larsen JW Jr, Powers J (1985) Prenatal diagnosis of Zellweger cerebro-hepato-renal syndrome. N Engl J Med 312:445?446

Hess R, Staubli W, Riess W (1965) Nature of the hepatomegalic effect produced by ethyl-chlorophenoxy-isoburyrate in the rat. Nature 208:856?858

Heymans HSA (1984) Cerebro-hepato-renal (Zellweger) Syndrome. Clinical and biochemical consequences of peroxisomal dysfunction. PhD Thesis, University of Amsterdam

Heymans HSA, Schutgens RBH, Tan R, van den Bosch H, Borst P (1983) Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger Syndrome). Nature 306:69?70

Heymans HSA, van den Bosch H, Schutgens RBH, Tegelaers WHH, Walter J-U, Müller-Höcker J, Borst P (1984) Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome. Eur J Pediatr 142:10?15

Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH (1985) Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med 313:187?188

Höltta E (1977) Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidase. Biochemistry 16:91?100

Hruban Z, Vigil EL, Slesers A, Hopkins E (1972) Microbodies: constituent organelles of animal cells. Lab Invest 27:184?191

Hungerbühler JP, Meier C, Rousselle L, Quadri P, Bogousslavsky (1985) Refsum's disease: management by diet and plasmaphoresis. Eur Neurol 24:153?159

Igarashi M, Schaumburg HH, Powers JM, Kishimoto Y, Kolodny E, Suzuki K (1976) Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 26:851?860

Jaffe R, Crumrine P, Hashida Y, Moser HW (1982) Neonatal adrenoleukodystrophy. Clinical, pathological and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 198:100?111

Kase F, Björkhem I, Pedersen JI (1983) Formation of cholic acid from 3?, 7?, 12?-trihydroxy-5?-cholestanoic acid by rat liver peroxisomes. J Lipid Res 24:1560?1567

Kase BF, Björkhem I, Haga P, Pedesen JI (1985) Defective peroxisomal cleavage of the C27-steroid side chain in the cerebrohepato-renal syndrome of Zellweger. J Clin Invest 75:427?435

Kelley RI (1983) Review: the cerebro-hepato-renal syndrome of Zellweger, morphologic and metabolic aspects. Am J Med Genet 16:503?517

Kelley RI, Moser HW (1984) Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. Am J Med Genet 19:791?795

Kindl H, Lazarow PB (eds) (1982) Peroxisomes and glyoxysomes. Ann NY Acad Sci 386:1?55

Kretzer FL, Hittmer HM, Mehta R (1981) Ocular manifestations of Conradi and Zellweger syndromes. Metab Pediatr Ophthalmol 5:1?11

Lazarow PB (1977) Three hypolipidemic drugs increase hepatic palmitoyl-coenzyme A oxidation in the rat. Science 197:580?581

Lazarow PB (1982) Peroxisomes. In: Arias I, Popper H, Schachter D, Shafritz DA (eds) Liver: biology and pathology. Raven Press, NY, pp 27?39

Lazarow PB, De Duve C (1976) A fatty acyl-CoA oxidazing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug. Proc Natl Acad Sci USA 73:2043?2046

Mannaerts GP, Debeer LJ, Thomas J, de Schepper PJ (1979) Mitochondrial and peroxisomal fatty acid oxidation in rat liver homogenates and isolated hepatocytes from control and clofibrate-treated rats. J Biol Chem 254:4585?4595

Miura S, Mori M, Takiguchi M, Tatibani M, Furuta S, Miyazawa S, Hashimoto T (1984) Biosynthesis and intracellular transport of enzymes of peroxisomal ?-oxidation. J Biol Chem 259:6397?6402

Moody DE, Reddy JK (1978) Hepatic peroxisomes (microbody) proliferation in rats fed plasticizers and related compounds. Toxicol Appl Pharmacol 45:497?505

Mooi WJ, Dingemans KP, van den Bergh MA, Jöbsis AC, Heymans HS, Barth PG (1983) Ultrastructure of the liver in the cerebro-hepato-renal syndrome of Zellweger. Ultrastruct Pathol 5:135?144

Mortensen PB, Gregersen N, Rasmussen K (1983) The ?-oxidation of dicarboxylic acids in isolated mitochondria and peroxisomes. J Inherited Metab Dis 6 [Suppl] 2: 123?124

Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y (1980) Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 7:542?549

Moser HW, Moser AB, Powers JM, Nitowski HM, Schaumburg HH, Norum RA, Migeon BR (1982) The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland. Pediatr Res 16:172?175

Moser HW, Moser AE, Trojak JE, Supplee SW (1983) Identification of female carriers of adrenoleukodystrophy. J Pediatr 103:54?59

Moser AE, Singh I, Brown FR III, Solish GI, Kelley RI, Benke PJ, Moser HW (1984) The cerebro-hepato-renal (Zellweger) syndrome. Increased levels and impaired degradation of very long chain fatty acids and their use in prenatal diagnosis. N Engl J Med 310:1141?1146

Moser HW, Moser AE, Singh I, O'Neill BP (1984) Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis and therapy. Ann Neurol 16:628?641

Müller-Höcker J, Bise K, Endres W, Hübner G (1981) Zur Morphologie und Diagnostik des Zellweger Syndromes. Virchows Arch [Pathol Anat] 393:103?114

Novikoff AB, Shin WY (1964) The endoplasmic reticulum in the Golgi zope and its relation to microbodies, Golgi apparatus and autophagic vacuoles in rat liver cells. J Microsc 3:187?206

Ozasa H, Miyazawa S, Osumi T (1983) Biosynthesis of carnitine octanoyltransferase and carnitine palmitoyltransferase. J Biochem (Tokyo) 94:543?549

Osmundsen H, Neat CJ, Borreback B (1980) Fatty acid products of peroxisomal ?-oxidation. Int J Biochem 12:625?630

Parmentier GP, Janssen GA, Eggermont EA, Eyssen HJ (1979) C27 Bile acids in infants with coprostanoic acidemia and occurrence of a 3?, 7?, 12?-trihydroxy-5?-C29 dicarboxylic bile acid as a major component in their serum. Eur J Biochem 102:173?183

Partin JS, McAdams AJ (1983) Absence of hepatic peroxisomes in neonatal onset adrenoleukodystrophy. Pediatr Res 17:294A; Abstract 1242

Pfeiffer U, Sandhage K (1979) Licht-und Elektronenmikroskopische Leberfunde beim cerebro-hepato-renal Syndrome nach Zellweger (Peroxisomen-Deficienz). Virchows Arch [Pathol Anat] 384:269?284

Poll-Thé BT, Ogier H, Saudubray JM, Schutgens RBH, Wanders RJA, van den Bosch H, Schrakamp G (1985) Impaired plasmalogen metabolism in infantile Refsum's disease. Eur J Pediatr (in press)

Poll-Thé BT, Saudubray JM, Ogier H, Schutgens RBH, Wanders RJA, Schrakamp G, van den Bosch H, Trijbels F, Poulos A, Moser HW, van Elderen J, Eysen (1986) Infantile Refsum's disease: biochemical findings suggesting a generalized dysfunction of peroxisomes. J Inherited Metab Dis (in press)

Poll-Thé BT, Poulos A, Sharp P, Boué J, Ogier H, Odièvre, Saudubray JM (1985) Antenatal diagnosis of infantile Refsum's disease. Clin Genet 27:524?525

Poulos A, Sharp P (1984) Plasma and skin fibroblasts C26 fatty acids in infantile Refsum's disease. Neurology (NY) 34:1606?1609

Poulos A, Whiting MJ (1985) Identification of 3?, 7?, 12?-trihydroxy-5?-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease. J Inherited Metab Dis 8:13?17

Poulos A, Pollard AC, Mitchell JD, Wise D, Mortimer G (1984) Patterns of Refsum's disease. Phytanic acid oxidase deficiency. Arch Dis Child 59:222?229

Poulos A, Sharp F, Whiting M (1984) Infantile Refsum's disease (phytanic acid storage disease). A variant of Zellweger syndrome? Clin Genet 26:579?586

Rachubinski Ra, Fujiki Y, Mortensen RM, Lazarow PB (1985) Acyl-CoA oxidase and hydratase-dehydrogenase, two enzymes of the peroxisomal ?-oxidation system, are synthesized on free polysomes of clofibrate-treated rat liver. J Cell Biol 99:2241?2246

Rhodin J (1954) Correlation of ultrastructural organization and function in normal and experimentally changed proximal tubule cells of the mouse kidney. Doctoral thesis, Karolinska Institute, Stockholm, Akitbolaget Godvil

Robbi M, Lazarow PB (1978) Synthesis of catalase in two cellfree protein-synthesizing systems and in rat liver. Proc Natl Acad Sci USA 75:4344?4348

Rouiller C, Bernhard W (1956) ?Microbodies? and the problem of mitochondrial regeneration in liver cells. J Biophys Biochem Cytol [Suppl] 2:355?359

Salen G, Zaki FG, Saberin S, Boehme D, Shafer S, Mosbach EH (1978) Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis (CTX). Gastroenterology 74: 82?89

Schaumburg HH, Powers JH, Raine CS, Suzuki K, Richardson EP Jr (1975) Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 32:577?591

Schram AW, Strijland A, Hashimoto T, Wanders RJA, Schutgens RBH, van den Bosch H, Tager JM (1985) Blosynthesis and maturation of peroxisomal ?-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum's disease. Proc Natl Acad Sci (USA) submitted

Schrakamp G, Rooseboom CFP, Schutgens RBH, Wanders RJA, Heymans HSA, Tager JM, van den Bosch H (1985) Alkyldihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome. J Lipid Res 26:867?873

Schrakamp G, Schutgens RBH, Wanders RJA, Heymans HSA, Tager JM, van den Bosch H (1985) The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts. Biochim Biophys Acta 833:170?174

Schutgens RBH, Purvis R, Romeijn GJ, Heymans HSA, van den Bosch H (1983) Zellweger (cerebro-hepato-renal) syndrome: pre- and postnatal diagnosis by quantitative analysis of ethanolamine-plasmalogens. III. International Symposium on Monoclonal Antibodies and Inborn Errors of Metabolism, Brugge, abstract 113

Schutgens RBH, Romeijn GJ, Wanders RJA, van den Bosch H, Schrakamp G, Heymans HSA (1984) Deficiency of acylCoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem Biophys Res Commun 120:179?184

Schutgens RBH, Heymans HSA, Wanders RJA, Schrakamp G, van den Bosch H (1984) Prenatal detection of Zellweger syndrome. Lancet II:1339?1340

Schutgens RBH, Schrakamp G, Wanders RJA, Heymans HSA, Moser HW, Moser AE, Tager JM, van den Bosch H, Aubourgh P (1985) The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. Prenat Diagn 5:337?344

Schutgens RBH, Heymans HSA, Wanders RJA, van den Bosch H, Schrakamp G (1985) Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis. J Inherited Metab Dis 8 [Suppl] 2: 153?154

Scotto JM, Hadchouel M, Odievre M, Landat MH, Saudubray JM, Dulac O, Beucler I, Bean P (1982) Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases including ultrastructural studies of the liver. J Inherited Metab Dis 5:83?90

Sengers RCA, Stadhouders AM, Trijbels JMF (1984) Mitochondrial myopathies. Clinical, morphological and biochemical aspects. Eur J Pediatr 141:192?207

Siemerling E, Creutzfeldt HC (1923) Bronzekrankheit und Sklerosierende Encephalomyelitis (diffuse Sclerose). Arch Psychiatr 68:217?244

Singh I, Moser AE, Goldfischer S, Moser HW (1984) Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci 81:4203?4207

Solish GI, Moser HW, Ringer LD, Moser AE, Tiffany C, Schutta E (1985) The prenatal diagnosis of the cerebro-hepatorenal syndrome of Zellweger. Prenat Diagn 5:27?34

Spranger JW, Opitz JM, Bidder U (1971) Heterogeneity of chondrodysplasia punctata. Humangenetik 11:190?212

Steinberg D (1983) Phytanic acid storage disease (Refsum's disease). In: Stanbury JD, Wijngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, NY, pp 731?747

Sternlieb I, Quintana N (1977) The peroxisomes of human hepatocytes. Lab Invest 36:140?149

Stokke O, Skrede S, Ek J, Björhem I (1984) Refsum's disease, adrenoleukodystrophy, and the Zellweger syndrome. Scand J Clin Lab Invest 44:463?464

Tager JM, ten Harmsen van der Beek WA, Wanders RJA, Hashimoto T, Heymans HSA, van den Bosch H, Schutgens RBH, Schram AW (1985) Peroxisomal ?-oxidation enzyme proteins in the Zellweger syndrome. Biochem Biophys Res Commun 126: 1269?1275

Thomas GH, Haslam HA, Gatschaw MO, Capute AJ, Neidengoud L, Ranson JL (1975) Hyperpipecolic acidemia associated with hematomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet 8:376?382

Tönshoff B, Lehnert W, Ropers HH (1982) Adrenoleukodystrophy: diagnosis and carrier detection by determination of long chain fatty acids in cultured fibroblasts. Clin Genet 22:25?29

Tolbert NE (1981) Metabolic pathways in peroxisomes and glyoxysomes. Ann Rev Biochem 50:133?157

Trijbels J, Monnens L, Bakkeren J, van Raay-Selten A (1979) Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid. J Inherited Metab Dis 2:39?42

Trijbels JMF, Berden JA, Monnens LAH, Willems JL, Janssen AJM, Schutgens RBH, van den Broek-van Essen (1983) Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a defect in the electron-transport chain possible caused by a deficiency of peroxisomes. Pediatr Res 17:514?517

Tsai C, Avigan J, Steinberg D (1969) Studies on the ?-oxidation of phytanic acid by rat liver mitochondria. J Biol Chem 244: 2682?2692

Tsuji S, Sano T, Ariga T, Miuataka T (1981) Increased synthesis of hexacosanic acid (C26:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) J Biochem 90:1233?1236

Tutschka PJ, Yeager AM, Moser HW, Brown Fr III, Singh I, Santos GW (1983) Bone marrow transplantation in adrenoleukodystrophy. Pediatr Res 221A; abstract 804

Vamecq J, van Hoof F (1984) Implication of a peroximal enzyme in the metabolism of glutaryl-CoA. Biochem J 221:203?211

Versmold HT, Bremer HJ, Herzog V, Siegel G, Bassewitz DB, Irle V, Voss H, Laubel I, Brauser B (1977) A metabolic disorder similar to Zellweger syndrome with hepatic acatalasemia and absence of peroxisomes. Eur J Pediatr 124:261?275

Wanders RJA, Kos M, Roest B, Meijer AJ, Schrakamp G, Heymans HSA, Tegelaers WHH, van den Bosch H, Schutgens RBH, Tager JM (1984) Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Biochem Biophys Res Commun 123:1054?1061

Wanders RJA, Schutgens RBH, Schrakamp G, van den Bosch H, Tager JM, Schram AW, Hashimoto T, Poll-Thé BT, Saudubray JM (1985) Infantile Refsum's disease: absence of catalase containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and two ?-oxidation enzyme proteins. Eur J Pediatr (in press)

Wanders RJA, van Weringh G, Schrakamp G, Tager JM, van den Bosch H, Schutgens RBH (1985) Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal test. Clin Chim Acta 151: 217?221

Wanders RJA, Schrakamp G, van den Bosch H, Tager JM, Schutgens RBH (1985) A prenatal test for the cerebro-hepatorenal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells. Eur J Pediatr (in press)

Wanders RJA, Heymans HSA, Schutgens RBH (1985) Impaired cholesterol side chain cleavage in the cerebro-hepato-renal (Zellweger) syndrome. J Inher Met Dis (1986) Suppl 2 (in press)