Home LiteratureArticle Details
PMID: 3514227 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Peroxisomal disorders: a newly recognised group of genetic diseases.

European journal of pediatrics ·Vol. 144 ·No. 5 ·1986-02-00 ·Pages 430-40

Schutgens RB, Heymans HS, Wanders RJ, van den Bosch H, Tager JM

Abstract

暂无摘要

MeSH Terms
Bile Acids and Salts/metabolism Catalase/metabolism Child Child, Preschool Fatty Acids/metabolism Genetic Diseases, Inborn/diagnosis,metabolism,pathology Humans Male Microbodies/physiology Mitochondria/metabolism Plasmalogens/biosynthesis Prenatal Diagnosis
Chemicals
Bile Acids and Salts Fatty Acids Plasmalogens Catalase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Schutgens R B
Heymans H S
Wanders R J
van den Bosch H
Tager J M
References (98)
98 references, click to expand
  1. Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidase.
    Biochemistry. 1977 Jan 11;16(1):91-100 PMID: 12798
  2. Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.
    Am J Pathol. 1982 Jul;108(1):100-11 PMID: 7091298
  3. Serum very long chain fatty acid pattern in Zellweger syndrome.
    Clin Chim Acta. 1984 Apr 27;138(3):325-31 PMID: 6723067
  4. Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome.
    Scand J Clin Lab Invest. 1984 Sep;44(5):463-4 PMID: 6207587
  5. Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.
    Eur J Pediatr. 1984 Apr;142(1):10-5 PMID: 6714253
  6. Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies).
    J Biol Chem. 1979 Nov 10;254(21):10896-900 PMID: 500614
  7. Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies.
    Science. 1985 Jan 4;227(4682):67-70 PMID: 3964959
  8. A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.
    Eur J Pediatr. 1986 Apr;145(1-2):136-8 PMID: 3732317
  9. Heterogeneity of Chondrodysplasia punctata.
    Humangenetik. 1971;11(3):190-212 PMID: 5544780
  10. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.
    Proc Natl Acad Sci U S A. 1984 Jul;81(13):4203-7 PMID: 6588384
  11. Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.
    Am J Med Genet. 1984 Dec;19(4):791-5 PMID: 6517102
  12. Three hypolipidemic drugs increase hepatic palmitoyl-coenzyme A oxidation in the rat.
    Science. 1977 Aug 5;197(4303):580-1 PMID: 195342
  13. Prenatal detection of Zellweger syndrome.
    Lancet. 1984 Dec 8;2(8415):1339-40 PMID: 6150348
  14. Does microsomal glycerophosphate acyltransferase also catalyze the acylation of dihydroxyacetone phosphate?
    FEBS Lett. 1984 Oct 15;176(1):264-8 PMID: 6489517
  15. Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease.
    J Inherit Metab Dis. 1985;8(1):13-7 PMID: 2581062
  16. Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.
    J Lipid Res. 1985 Jul;26(7):867-73 PMID: 4031664
  17. [Chondrodysplasia punctata congenita: a genetic heterogenous disease].
    Tijdschr Kindergeneeskd. 1984 Feb;52(1):16-23 PMID: 6710469
  18. The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger.
    Prenat Diagn. 1985 Jan-Feb;5(1):27-34 PMID: 3975221
  19. Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.
    J Pediatr. 1981 Nov;99(5):729-34 PMID: 7299546
  20. 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. 1985 Mar 15;226(3):697-704 PMID: 3985942
  21. Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.
    J Cell Biol. 1985 May;100(5):1789-92 PMID: 3988808
  22. Intracellular localization of catalase and of some oxidases in rat liver.
    Biochim Biophys Acta. 1960 May 6;40:186-7 PMID: 13814739
  23. Mitochondrial myopathies. Clinical, morphological and biochemical aspects.
    Eur J Pediatr. 1984 Feb;141(4):192-207 PMID: 6329761
  24. Biosynthesis of carnitine octanoyltransferase and carnitine palmitoyltransferase.
    J Biochem. 1983 Aug;94(2):543-9 PMID: 6630174
  25. Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test.
    Clin Chim Acta. 1985 Oct 15;151(3):217-21 PMID: 4053381
  26. [Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report].
    Virchows Arch A Pathol Anat Histol. 1981;393(1):103-14 PMID: 7347441
  27. Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.
    Eur J Pediatr. 1976 Sep 1;123(2):89-109 PMID: 987909
  28. Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway.
    Ann N Y Acad Sci. 1982;386:170-82 PMID: 7046569
  29. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.
    Biochem Biophys Res Commun. 1984 Apr 16;120(1):179-84 PMID: 6712687
  30. 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. 1985 May-Jun;69(1-2):9-25 PMID: 4009207
  31. Cell-free synthesis of the enzymes of peroxisomal beta-oxidation.
    Biochem Biophys Res Commun. 1982 Mar 30;105(2):639-46 PMID: 6178408
  32. Adrenoleukodystrophy. A clinical and pathological study of 17 cases.
    Arch Neurol. 1975 Sep;32(9):577-91 PMID: 169765
  33. Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.
    Can Med Assoc J. 1968 Dec 28;99(25):1215-33 PMID: 5700850
  34. Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.
    N Engl J Med. 1985 Feb 14;312(7):445-6 PMID: 3969102
  35. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
    Ann Neurol. 1984 Dec;16(6):628-41 PMID: 6524872
  36. Synthesis of a major integral membrane polypeptide of rat liver peroxisomes on free polysomes.
    Proc Natl Acad Sci U S A. 1984 Nov;81(22):7127-31 PMID: 6594687
  37. Degradation of cholesterol to propionic acid by rat liver peroxisomes.
    Biochem Biophys Res Commun. 1982 Aug;107(3):834-41 PMID: 7138522
  38. Biosynthesis and intracellular transport of enzymes of peroxisomal beta-oxidation.
    J Biol Chem. 1984 May 25;259(10):6397-402 PMID: 6725256
  39. Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome.
    Virchows Arch A Pathol Anat Histopathol. 1983;401(3):355-61 PMID: 6415912
  40. Increased synthesis of hexacosanoic acid (C23:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).
    J Biochem. 1981 Oct;90(4):1233-6 PMID: 7309718
  41. Metabolic pathways in peroxisomes and glyoxysomes.
    Annu Rev Biochem. 1981;50:133-57 PMID: 7023357
  42. Pathologic alterations in the brain and liver in hyperpipecolic acidemia.
    J Neuropathol Exp Neurol. 1983 Nov;42(6):627-38 PMID: 6631455
  43. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.
    N Engl J Med. 1985 Jul 18;313(3):187-8 PMID: 4010717
  44. Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
    Arch Dis Child. 1984 Mar;59(3):222-9 PMID: 6201142
  45. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.
    N Engl J Med. 1984 Oct 25;311(17):1080-3 PMID: 6566965
  46. The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.
    Prenat Diagn. 1985 Sep-Oct;5(5):337-44 PMID: 4070172
  47. Acyl-Coa oxidase and hydratase-dehydrogenase, two enzymes of the peroxisomal beta-oxidation system, are synthesized on free polysomes of clofibrate-treated rat liver.
    J Cell Biol. 1984 Dec;99(6):2241-6 PMID: 6501422
  48. A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis.
    Eur J Pediatr. 1977 Mar 18;124(4):261-75 PMID: 844460
  49. Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts.
    Clin Genet. 1982 Jul;22(1):25-9 PMID: 7172473
  50. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
    Clin Genet. 1984 Dec;26(6):579-86 PMID: 6209040
  51. Biogenesis of peroxisomes: intracellular site of synthesis of catalase and uricase.
    Proc Natl Acad Sci U S A. 1978 Oct;75(10):5066-70 PMID: 368807
  52. Peroxisomes (microbodies and related particles).
    Physiol Rev. 1966 Apr;46(2):323-57 PMID: 5325972
  53. Refsum's disease: management by diet and plasmapheresis.
    Eur Neurol. 1985;24(3):153-9 PMID: 2581787
  54. Peroxisomes (microbodies) in cell pathology.
    Int Rev Exp Pathol. 1984;26:45-84 PMID: 6400515
  55. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.
    Ann Neurol. 1980 Jun;7(6):542-9 PMID: 7436359
  56. Hepatic peroxisome (microbody) proliferation in rats fed plasticizers and related compounds.
    Toxicol Appl Pharmacol. 1978 Aug;45(2):497-504 PMID: 705785
  57. Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes.
    J Lipid Res. 1983 Dec;24(12):1560-7 PMID: 6668450
  58. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.
    J Inherit Metab Dis. 1982;5(2):83-90 PMID: 6188882
  59. [Light and electron microscopic liver changes in the cerebro-hepato-renal syndrome of Zellweger (Peroxisome deficiency) (author's transl)].
    Virchows Arch A Pathol Anat Histol. 1979 Oct;384(3):269-84 PMID: 160119
  60. New form of adrenoleukodystrophy.
    Hum Genet. 1981;58(2):204-8 PMID: 7287005
  61. Microbodies and the problem of mitochondrial regeneration in liver cells.
    J Biophys Biochem Cytol. 1956 Jul 25;2(4 Suppl):355-60 PMID: 13357568
  62. Ocular manifestations of Conradi and Zellweger syndromes.
    Metab Pediatr Ophthalmol. 1981;5(1):1-11 PMID: 6789017
  63. C27 bile acids in infants with coprostanic acidemia and occurrence of a 3 alpha,7 alpha,12 alpha-tridhydroxy-5 beta-C29 dicarboxylic bile acid as a major component in their serum.
    Eur J Biochem. 1979 Dec;102(1):173-83 PMID: 520320
  64. Ultrastructure of the liver in th cerebrohepatorenal syndrome of Zellweger.
    Ultrastruct Pathol. 1983 Sep-Oct;5(2-3):135-44 PMID: 6322395
  65. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.
    Biochem Biophys Res Commun. 1984 Sep 28;123(3):1054-61 PMID: 6148939
  66. Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.
    J Clin Invest. 1985 Feb;75(2):427-35 PMID: 3973012
  67. Mitochondrial and peroxisomal fatty acid oxidation in liver homogenates and isolated hepatocytes from control and clofibrate-treated rats.
    J Biol Chem. 1979 Jun 10;254(11):4585-95 PMID: 438207
  68. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.
    Clin Genet. 1975 Nov;8(5):376-82 PMID: 1204235
  69. The design of a diet restricted in saturated very long-chain fatty acids: therapeutic application in adrenoleukodystrophy.
    Am J Clin Nutr. 1984 Aug;40(2):277-84 PMID: 6465061
  70. The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.
    Biochim Biophys Acta. 1985 Jan 9;833(1):170-4 PMID: 3967038
  71. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
    N Engl J Med. 1984 May 3;310(18):1141-6 PMID: 6709009
  72. Identification of female carriers of adrenoleukodystrophy.
    J Pediatr. 1983 Jul;103(1):54-9 PMID: 6864396
  73. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.
    Science. 1973 Oct 5;182(4107):62-4 PMID: 4730055
  74. Nature of the hepatomegalic effect produced by ethyl-chlorophenoxy-isobutyrate in the rat.
    Nature. 1965 Nov 27;208(5013):856-8 PMID: 5870099
  75. Antenatal diagnosis of infantile Refsum's disease.
    Clin Genet. 1985 May;27(5):524-6 PMID: 2408795
  76. Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.
    Biochem Biophys Res Commun. 1985 Feb 15;126(3):1269-75 PMID: 3977916
  77. Fatty acid products of peroxisomal beta-oxidation.
    Int J Biochem. 1980;12(4):625-30 PMID: 6107254
  78. A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.
    Bull Johns Hopkins Hosp. 1964 Jun;114:402-14 PMID: 14169466
  79. Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.
    Eur J Pediatr. 1982 Oct;139(2):125-8 PMID: 7151832
  80. The peroxisomes of human hepatocytes.
    Lab Invest. 1977 Feb;36(2):140-9 PMID: 190476
  81. Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.
    Proc Natl Acad Sci U S A. 1986 Aug;83(16):6156-8 PMID: 2426710
  82. Studies on the alpha oxidation of phytanic acid by rat liver mitochondria.
    J Biol Chem. 1969 May 25;244(10):2682-92 PMID: 4181515
  83. Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis.
    J Inherit Metab Dis. 1985;8 Suppl 2:153-4 PMID: 3930873
  84. 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. 1985;69(3):272-4 PMID: 3856557
  85. Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis (CTX).
    Gastroenterology. 1978 Jan;74(1):82-9 PMID: 618433
  86. Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.
    J Inherit Metab Dis. 1980;2(2):39-42 PMID: 6796759
  87. Fatty acid abnormality in adrenoleukodystrophy.
    J Neurochem. 1976 Apr;26(4):851-60 PMID: 965973
  88. The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland.
    Pediatr Res. 1982 Mar;16(3):172-5 PMID: 7063272
  89. Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.
    Am J Med Genet. 1983 Dec;16(4):503-17 PMID: 6362411
  90. The peroxisome: a new cytoplasmic organelle.
    Proc R Soc Lond B Biol Sci. 1969 Apr 15;173(1030):71-83 PMID: 4389648
  91. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.
    Neurology. 1977 Dec;27(12):1107-13 PMID: 200861
  92. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).
    Nature. 1983 Nov 3-9;306(5938):69-70 PMID: 6633659
  93. Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies.
    Biochim Biophys Acta. 1972 Jun 26;273(1):212-21 PMID: 5064535
  94. Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease.
    Neurology. 1984 Dec;34(12):1606-9 PMID: 6209596
  95. Implication of a peroxisomal enzyme in the catabolism of glutaryl-CoA.
    Biochem J. 1984 Jul 1;221(1):203-11 PMID: 6547838
  96. Microbodies: constituent organelles of animal cells.
    Lab Invest. 1972 Aug;27(2):184-91 PMID: 5055204
  97. A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug.
    Proc Natl Acad Sci U S A. 1976 Jun;73(6):2043-6 PMID: 180535
  98. Synthesis of catalase in two cell-free protein-synthesizing systems and in rat liver.
    Proc Natl Acad Sci U S A. 1978 Sep;75(9):4344-8 PMID: 279920
Article Info
Journal
European journal of pediatrics
Abbr.
Eur J Pediatr
ISSN
0340-6199
Published
1986-02-00
Pages
430-40
Language
English
Region
Germany
NLM ID
7603873
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]