Zellweger spectrum disorders: Clinical overview and management approach Inherited metabolic diseases

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Klouwer, Femke C C ^a   Berendse, Kevin ^a   Ferdinandusse, Sacha ^a   Wanders, Ronald J A ^a   Engelen, Marc ^a   Poll The, Bwee Tien ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Heimler syndrome; Infantile Refsum disease; Neonatal adrenoleukodystrophy; PBD; Peroxisome biogenesis disorder; PEX; Very long chain fatty acids; VLCFA; Zellweger spectrum disorder; Zellweger syndrome; ZSD

Indexed keywords

CHOLIC ACID; CITRIC ACID; DOCOSAHEXAENOIC ACID; LORENZO OIL; PEROXIN; PLASMALOGEN;

ARTICLE; CHILDHOOD DISEASE; CHROMOSOME ABERRATION; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); CONSERVATIVE TREATMENT; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INCIDENCE; LABORATORY TEST; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PEX GENE; PRENATAL DIAGNOSIS; PROGNOSIS; PROTEIN DEFICIENCY; QUALITY OF LIFE; SYMPTOMATOLOGY; ZELLWEGER SYNDROME; DISEASE MANAGEMENT; GENETICS; MUTATION; PEROXISOME;

DISEASE MANAGEMENT; HUMANS; MUTATION; PEROXISOMES; ZELLWEGER SYNDROME;

EID: 84957427118     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0368-9     Document Type: Article

References (78)

1. Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822;2012:1430-41.
2. Fujiki Y, Okumoto K, Mukai S, Honsho M, Tamura S. Peroxisome biogenesis in mammalian cells. Front Physiol. 2014;5:307.
3. Braverman NE, D'Agostino MD, Maclean GE. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17:187-96.
4. Wanders RJA, Waterham HR. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem. 2006;75:295-332.
5. Bowen P, Lee CS, Zellweger H, Lindenberg R. A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp. 1964;114:402-14.
6. Poll-The BT, Saudubray JM, Ogier HA, Odièvre M, Scotto JM, Monnens L, et al. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. Eur J Pediatr. 1987;146:477-83.
7. Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch S-A, Cooper N, Ong KR, Smith CEL, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, et al.: Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet 2015, in press.
8. Smith DW, Opitz JM, Inhorn SL. A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. J Pediatr. 1965;67:617-24.
9. Opitz JM, Zu Rhein GM, Vitale L, Shahidi NJ, Howe JJ, Chon SM, et al. The Zellweger Syndrome (cerebro-hepato-renal syndrome). Birth Defects Orig Art Set. 1969;2:144-58.
10. Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science. 1973;182:62-4.
11. Poulos A, Sharp P, Whiting M. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? Clin Genet. 1984;26:579-86.
12. Kelley RI, Moser HW. Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. Am J Med Genet. 1984;19:791-5.
13. Van Veldhoven PP. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J Lipid Res. 2010;51:2863-95.
14. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, et al. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet. 1997;17:445-8.
15. Wanders RJA, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005;67:107-33.
16. Collins CS, Gould SJ. Identification of a common PEX1 mutation in Zellweger syndrome. Hum Mutat. 1999;14:45-53.
17. Gould S, Raymond G, Valle D: The Peroxisome biogenesis disorders. In The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York, NY: McGraw-Hill; 2001:3181-3218.
18. Levesque S, Morin C, Guay S-P, Villeneuve J, Marquis P, Yik WY, et al. A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Med Genet. 2012;13:72.
19. Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. Am J Med Genet A. 2003;120A:40-3.
20. Haynes CA, De Jesús VR. The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening. Clin Biochem. 2014;48:8-10.
21. Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, et al. Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines. Mol Genet Metab. 2015;114:599-603.
22. Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, et al. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97:212-20.
23. Poll-The BT, Gärtner J. Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochim Biophys Acta. 1822;2012:1421-9.
24. Steinberg SJ, Raymond G V, Braverman NE, Moser AB: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. Gene Rev2003. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed 1 Sep 2015.
25. Poll-The BT, Gootjes J, Duran M, De Klerk JBC, Wenniger Prick LJM De B, Admiraal RJC, et al. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A. 2004;126A:333-8.
26. Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.
27. Van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJA, et al. MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 2012;78:1304-8.
28. Barth PG, Gootjes J, Bode H, Vreken P, Majoie CBLM, Wanders RJA. Late onset white matter disease in peroxisome biogenesis disorder. Neurology. 2001;57:1949-55.
29. Moser AB, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, et al. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr. 1995;127:13-22.
30. Berendse K, Engelen M, Linthorst GE, van Trotsenburg ASP Poll-The BT. High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.Orphanet J Rare Dis.2014:9:133
31. Berendse K, Engelen M, Ferdinandusse S, Majoie CBLM, Waterham HR, Vaz FM, Koelman JHTM, Barth PG, Wanders RJA, Poll-The BT: Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis 2015, in press.
32. Pineda M, Girós M, Roels F, Espeel M, Ruiz M, Moser A, et al. Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism. J Child Neurol. 1999;14:434-9.
33. Gootjes J, Schmohl F, Mooijer PAW, Dekker C, Mandel H, Topcu M, et al. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. Hum Mutat. 2004;24:130-9.
34. Ebberink MS, Mooijer PAW, Gootjes J, Koster J, Wanders RJA, Waterham HR. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat. 2011;32:59-69.
35. Zeharia A, Ebberink MS, Wanders RJA, Waterham HR, Gutman A, Nissenkorn A, et al. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. J Hum Genet. 2007;52:599-606.
36. Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, et al. A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. J Inherit Metab Dis. 2009;32:109-19.
37. Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PAW, et al. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet. 2010;47:608-15.
38. Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CWT, IJlst L, et al. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat. 2007;28:904-12.
39. Ferdinandusse S, Denis S, Mooyer PAW, Dekker C, Duran M, Soorani-Lunsing RJ, et al. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 2006;59:92-104.
40. Horrocks LA, Yeo YK. Health benefits of docosahexaenoic acid (DHA). Pharmacol Res. 1999;40:211-25.
41. Birch EE, Hoffman DR, Uauy R, Birch DG, Prestidge C. Visual acuity and the essentiality of docosahexaenoic acid and arachidonic acid in the diet of term infants. Pediatr Res. 1998;44:201-9.
42. Martínez M, Vázquez E, García-Silva MT, Manzanares J, Bertran JM, Castelló F, et al. Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders. Am J Clin Nutr. 2000;71 Suppl 1:376S-85S.
43. Noguer MT, Martinez M. Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. Invest Ophthalmol Vis Sci. 2010;51:2277-85.
44. Paker M, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, et al. Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial. Neurology. 2010;75:826-30.
45. Moser AB, Borel J, Odone A, Naidu S, Cornblath D, Sanders DBMH. A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. Ann Neurol. 1987;21:240-9.
46. Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, Rocchiccioli F, Cartier N, Jambaque I, et al. A two-year trial of oleic and erucic acids ("Lorenzo's Oil") as treatment for adrenomyeloneuropathy. NEJM. 1993;329:745-52.
47. Van Geel BM, Assies J, Haverkort EB, Koelman JHTM, Verbeeten B, Wanders RJA, et al. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil.". J Neurol Neurosurg Psychiatry. 1999;67:290-9.
48. Tanaka K, Shimizu T, Ohtsuka Y, Yamashiro Y, Oshida K. Early dietary treatments with Lorenzo's oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome. Brain Dev. 2007;29:586-9.
49. Arai Y, Kitamura Y, Hayashi M, Oshida K, Shimizu T, Yamashiro Y. Effect of dietary Lorenzo's oil and docosahexaenoic acid treatment for Zellweger syndrome. Congenit Anom (Kyoto). 2008;48:180-2.
50. Ferdinandusse S, Denis S, Dacremont G, Wanders RJA. Toxicity of peroxisomal C27-bile acid intermediates. Mol Genet Metab. 2009;96:121-8.
51. Setchell KDR, Bragetti P, Zimmer-Nechemias L, Daugherty C, Pelli MA, Vaccaro R, et al. Oral bile acid treatment and the patient with zellweger syndrome. Hepatology. 1992;15:198-207.
52. Maeda K, Kimura A, Yamato Y, Nittono H, Takei H, Sato T, Mitsubuchi H, Murai T, Kurosawa T: Oral Bile Acid Treatment in Two Japanese Patients With Zellweger Syndrome. J Pediatr Gastroenterol Nutr. 2002, 35:227-230
53. Keane MH, Overmars H, Wikander TM, Ferdinandusse S, Duran M, Wanders RJ A, et al. Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice. Hepatology. 2007;45:982-97.
54. De Vet EC, van den Bosch H. Alkyl-dihydroxyacetonephosphate synthase. Cell Biochem Biophys. 2000;32:117-21.
55. Braverman NE, Moser AB. Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta. 1822;2012:1442-52.
56. Holmes RD, Wilson GN, Hajra A. Oral ether lipid therapy in patients with peroxisomal disorders. J Inherit Metab Dis. 1987;10:239-41.
57. Das AK, Holmes RD, Wilson GN, Hajra AK. Dietary ether lipid incorporation into tissue plasmalogens of humans and rodents. Lipids. 1992;27:401-5.
58. Wilson GN, Holmes RG, Custer J, Lipkowitz JL, Stover J, Datta N, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet. 1986;24:69-82.
59. Van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJA, Barth PG, et al. High incidence of hyperoxaluria in generalized peroxisomal disorders. Mol Genet Metab. 2006;88:346-50.
60. Leumann E, Hoppe B, Neuhaus T, Blau N. Efficacy of oral citrate administration in primary hyperoxaluria. Nephrol Dial Transplant. 1995;10 Suppl 8:14-6.
61. Buchman AL. Side effects of corticosteroid therapy. J Clin Gastroenterol. 2001;33:289-94.
62. Lertsirivorakul J, Wongswadiwat M, Treesuwan P. Oral manifestations and dental management of a child with Zellweger syndrome. Spec Care Dent. 2012;34:46-50.
63. Acharya BS, Ritwik P, Velasquez GM, Fenton SJ. Medical-dental findings and management of a child with infantile Refsum disease: a case report. Spec Care Dentist. 2012;32:112-7.
64. Zhang R, Chen L, Jiralerspong S, Snowden A, Steinberg S, Braverman N. Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds. Proc Natl Acad Sci U S A. 2010;107:5569-74.
65. Berendse K, Ebberink MS, Ljlst L, Wanders RJA, Waterham HR, Poll The BT. Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis. 2013;8:138.
66. Wei H, Kemp S, McGuinness MC, Moser AB, Smith KD. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol. 2000;47:286-96.
67. Imamura A, Tamura S, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, et al. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders. Hum Mol Genet. 1998;7:2089-94.
68. Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, et al. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Hum Mol Genet. 1999;8:1077-83.
69. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Bougnères P, Schmidt M, Kalle C, et al. Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy. Methods Enzymol. 2012;507:187-98.
70. Toscano MG, Romero Z, Muñoz P, Cobo M, Benabdellah K, Martin F. Physiological and tissue-specific vectors for treatment of inherited diseases. Gene Ther. 2011;18:117-27.
71. Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, et al. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol Genet Metab. 2014;111:522-32.
72. Sokal EM, Smets F, Bourgois A, Van Maldergem L, Buts JP, Reding R, et al. Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up. Transplantation. 2003;76:735-8.
73. Van Maldergem L, Moser AB, Vincent M-F, Roland D, Reding R, Otte JB et al. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. J Inherit Metab Dis. 2005;28:593-600.
74. Aubourg P, Blanche S, Jambaqué I, Rocchiccioli F, Kalifa G, Naud-Saudreau C et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med. 1990;322:1860-6.
75. Van Geel BM, Poll-The BT, Verrips A, Boelens JJ, Kemp S, Engelen M. Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. J Inherit Metab Dis. 2015;38:359-61.
76. Bader PI, Dougherty S, Cangany N, Raymond G, Jackson CE. Infantile Refsum disease in four Amish sibs. Am J Med Genet. 2000;90:110-4.
77. Rosewich H, Ohlenbusch A, Gärtner J. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet. 2005;42:e58.
78. Vallat C, Denis S, Bellet H, Jakobs C, Wanders RJA, Mion H. Major hyperpipecolataemia in a normal adult. J Inherit Metab Dis. 1996;19:624-6.