Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

Journal of Inherited Metabolic Disease

Volumn 39, Issue 1, 2016, Pages 93-106

  Berendse, Kevin ^a   Engelen, Marc ^a   Ferdinandusse, Sacha ^a   Majoie, Charles B L M ^a   Waterham, Hans R ^a   Vaz, Frédéric M ^a   Koelman, Johannes H T M ^a   Barth, Peter G ^a   Wanders, Ronald J A ^a   Poll The, Bwee Tien ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DAILY LIFE ACTIVITY; DENTATE NUCLEUS; DISEASE COURSE; GAIT DISORDER; HUMAN; LABORATORY TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; RETROSPECTIVE STUDY; SURVIVAL; WHITE MATTER; ZELLWEGER SYNDROME; FEMALE; FOLLOW UP; MALE; METABOLISM; PATHOLOGY; PROCEDURES; YOUNG ADULT;

BIOLOGICAL MARKER;

ADOLESCENT; ADULT; BIOMARKERS; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; RETROSPECTIVE STUDIES; WHITE MATTER; YOUNG ADULT; ZELLWEGER SYNDROME;

EID: 84954400928     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9880-2     Document Type: Article

References (48)

1. Bader PI, Dougherty S, Cangany N et al (2000) Infantile Refsum disease in four Amish sibs. Am J Med Genet 90:110–114
2. Barth PG, Majoie CBLM, Gootjes J et al (2004) Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology 62:439–444
3. Baumgartner MR, Poll-The BT, Verhoeven NM et al (1998) Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol 44:720–730
4. Berendse K, Engelen M, Linthorst GE et al (2014) High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. Orphanet J Rare Dis 9:133
5. Bootsma AH, Overmars H, van Rooij A et al (1999) Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis 22:307–310
6. Bowen P, Lee CS, Zellweger H, Lindenberg R (1964) A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114:402–414
7. Chaudhry V, Moser HW, Cornblath DR (1996) Nerve conduction studies in adrenomyeloneuropathy. J Neurol Neurosurg Psychiatry 61:181–185
8. Dacremont G, Vincent G (1995) Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts. J Inherit Metab Dis 18(Suppl 1):84–89
9. Dacremont G, Cocquyt G, Vincent G (1995) Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography. J Inherit Metab Dis 18(Suppl 1):76–83
10. Ebberink MS, Csanyi B, Chong WK et al (2010) Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet 47:608–615
11. Ebberink MS, Mooijer PAW, Gootjes J et al (2011) Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 32:59–69
12. Ebberink MS, Koster J, Visser G et al (2012) A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet 49:307–313
13. Einarsson K, Nilsell K, Leijd B, Angelin B (1985) Influence of age on secretion of cholesterol and synthesis of bile acids by the liver. N Engl J Med 313:277–282
14. Engelen M, van der Kooi AJ, Kemp S et al (2011) X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. J Peripher Nerv Syst 16:353–355
15. England JD, Gronseth GS, Franklin G et al (2005) Distal symmetric polyneuropathy: a definition for clinical research: report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. Neurology 64:199–207
16. Ferdinandusse S, Houten SM (2006) Peroxisomes and bile acid biosynthesis. Biochim Biophys Acta 1763:1427–1440
17. Ferdinandusse S, Denis S, Mooyer PAW et al (2006) Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol 59:92–104
18. Ferdinandusse S, Denis S, Dacremont G, Wanders RJA (2009) Toxicity of peroxisomal C27-bile acid intermediates. Mol Genet Metab 96:121–128
19. Foucher J, Chanteloup E, Vergniol J et al (2006) Diagnosis of cirrhosis by transient elastography (FibroScan): a prospective study. Gut 55:403–408
20. Gootjes J, Mooijer PAW, Dekker C et al (2002) Biochemical markers predicting survival in peroxisome biogenesis disorders. Neurology 59:1746–1749
21. Hiebler S, Masuda T, Hacia JG et al (2014) The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol Genet Metab 111:522–532
22. Kocur I, Resnikoff S (2002) Visual impairment and blindness in Europe and their prevention. Br J Ophthalmol 86:716–722
23. Lines MA, Jobling R, Brady L et al (2014) Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology 82:963–996
24. Matsui S, Funahashi M, Honda A, Shimozawa N (2013) Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene. Brain Dev 35:842–848
25. McMillan HJ, Worthylake T, Schwartzentruber J et al (2012) Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis 7:90
26. Mignarri A, Vinciguerra C, Giorgio A et al (2012) Zellweger spectrum disorder with mild phenotype caused by PEX2 gene mutations. JIMD Rep 6:43–46
27. Moser HW (1999) Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol Genet Metab 68:316–327
28. Moser AB, Rasmussen M, Naidu S et al (1995) Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 127:13–22
29. Peters HB (1961) Vision screening with a Snellen chart. Am J Optom Arch Am Acad Optom 38:487–505
30. Pierce SB, Walsh T, Chisholm KM et al (2010) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 87:282–288
31. Poll-The BT, Gärtner J (2012) Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochim Biophys Acta 1822:1421–1429
32. Poll-The BT, Gootjes J, Duran M et al (2004) Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A 126A:333–338
33. Raas-Rothschild A, Wanders RJA, Mooijer PAW et al (2002) A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet 70:1062–1068
34. Rashed MS, Al-Ahaidib LY, Aboul-Enein HY et al (2001) Determination of L-pipecolic acid in plasma using chiral liquid chromatography-electrospray tandem mass spectrometry. Clin Chem 47:2124–2130
35. Régal L, Ebberink MS, Goemans N et al (2010) Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol 68:259–263
36. Rosewich H, Ohlenbusch A, Gärtner J (2005) Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet 42, e58
37. Sevin C, Ferdinandusse S, Waterham HR et al (2011) Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis 6:8
38. Steinberg SJ, Raymond GV, Braverman NE, et al (2003) Peroxisome biogenesis disorders, Zellweger syndrome spectrum. In: GeneReviews Medical Genetics Information Resource [online]. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed 12 Dec
39. Steinberg SJ, Snowden A, Braverman NE et al (2009) A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. J Inherit Metab Dis 32:109–119
40. Van Asseldonk JTH, Van Den Berg LH, Kalmijn S et al (2005) Criteria for demyelination based on the maximum slowing due to axonal degeneration, determined after warming in water at 37°C: Diagnostic yield in chronic inflammatory demyelinating polyneuropathy. Brain 128:880–891
41. Van Geel BM, Koelman JHTM, Barth PG, Ongerboer de Visser BW (1996) Peripheral nerve abnormalities in adrenomyeloneuropathy: a clinical and electrodiagnostic study. Neurology 46:112–118
42. Van Woerden CS, Groothoff JW, Wijburg FA et al (2006) High incidence of hyperoxaluria in generalized peroxisomal disorders. Mol Genet Metab 88:346–350
43. Vreken P, van Lint AE, Bootsma A et al (1998) Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography–electron impact mass spectrometry. J Chromatogr B Biomed Sci Appl 713:281–287
44. Wanders RJA, Wiemer EA, Brul S et al (1989) Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy. J Inherit Metab Dis 12(Suppl 2):301–304
45. Wanders RJA, Denis S, Ruiter JP et al (1995a) Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts. J Inherit Metab Dis 18(Suppl 1):113–124
46. Wanders RJA, Ofman R, Romeijn GJ, Schutgens RBH (1995b) Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells. J Inherit Metab Dis 1:90–100
47. Weller S, Gould SJ, Valle D (2003) Peroxisome biogenesis disorders. Annu Rev Genomics Hum Genet 4:165–211
48. Wolthers BG, Hayer M (1982) The determination of oxalic acid in plasma and urine by means of capillary gas chromatography. Clin Chim Acta 120:87–102