peroxisomal disorders

Summary

Summary: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.

Top Publications

  1. Noguer M, Martinez M. Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. Invest Ophthalmol Vis Sci. 2010;51:2277-85 pubmed publisher
    ..with those reported previously, indicate that the DHA deficiency is an important pathogenic factor in peroxisomal disorders and should always be corrected...
  2. Chang C, Gould S. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. Am J Hum Genet. 1998;63:1294-306 pubmed
    ..26,27Delta allele. Thus, it appears that translation initiation at internal AUG codons may modulate disease phenotypes and should be considered whenever unexpectedly mild phenotypes result from severe mutations early in the coding region...
  3. Warren D, Morrell J, Moser H, Valle D, Gould S. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet. 1998;63:347-59 pubmed
  4. Takemoto Y, Suzuki Y, Horibe R, Shimozawa N, Wanders R, Kondo N. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain Dev. 2003;25:481-7 pubmed
    ..A novel method for the screening of peroxisomal disorders, using gas chromatography/mass spectrometry (GC/MS), was developed...
  5. Yik W, Steinberg S, Moser A, Moser H, Hacia J. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Hum Mutat. 2009;30:E467-80 pubmed publisher
    ..This information is beneficial for efforts aimed at establishing rapid and sensitive clinical diagnostics for PBD-ZSS patients and interpreting the results from these genetic tests...
  6. Matsumoto N, Tamura S, Fujiki Y. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. Nat Cell Biol. 2003;5:454-60 pubmed
    ..PEX26 expression in ZP167 cells re-establishes colocalization of Pex6 and Pex1 with Pex26, in a Pex6-dependent manner. Thus, Pex26 recruits Pex6-Pex1 complexes to peroxisomes...
  7. Peduto A, Baumgartner M, Verhoeven N, Rabier D, Spada M, Nassogne M, et al. Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. Mol Genet Metab. 2004;82:224-30 pubmed
    b>Peroxisomal disorders include a complex spectrum of diseases, characterized by a high heterogeneity from both the clinical and the biochemical points of view. Specific assays are required for the study of peroxisome metabolism...
  8. Wanders R, Waterham H. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005;67:107-33 pubmed
    The peroxisomal disorders represent a group of genetic diseases in humans in which there is an impairment in one or more peroxisomal functions...
  9. Poll The B, Gartner J. Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochim Biophys Acta. 2012;1822:1421-9 pubmed publisher
    b>Peroxisomal disorders are an important group of neurometabolic diseases. The clinical presentation is varied in terms of age of onset, severity, and different neurological symptoms...

More Information

Publications75

  1. Rosewich H, Ohlenbusch A, Gartner J. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet. 2005;42:e58 pubmed
    ..To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum...
  2. Ferdinandusse S, Denis S, Faust P, Wanders R. Bile acids: the role of peroxisomes. J Lipid Res. 2009;50:2139-47 pubmed publisher
    ..Several peroxisomal disorders are associated with distinct bile acid abnormalities and each disorder has a characteristic pattern of ..
  3. Infante J, Tschanz C, Shaw N, Michaud A, Lawrence P, Brenna J. Straight-chain acyl-CoA oxidase knockout mouse accumulates extremely long chain fatty acids from alpha-linolenic acid: evidence for runaway carousel-type enzyme kinetics in peroxisomal beta-oxidation diseases. Mol Genet Metab. 2002;75:108-19 pubmed
    ..tissues but have no known function, and are greatly increased in brain and other tissues of humans with peroxisomal disorders. Straight-chain acyl-CoA oxidase (AOX) catalyzes the first, rate-limiting step of peroxisomal beta-..
  4. Wanders R, Waterham H. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem. 2006;75:295-332 pubmed
  5. Bonekamp N, Volkl A, Fahimi H, Schrader M. Reactive oxygen species and peroxisomes: struggling for balance. Biofactors. 2009;35:346-55 pubmed publisher
    ..and scavenging of ROS in peroxisomes is perturbed, for example, exogenous manipulation, ageing and peroxisomal disorders, are addressed...
  6. Gootjes J, Schmohl F, Mooijer P, 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 pubmed
  7. Poll The B, Engelen M. Peroxisomal leukoencephalopathy. Semin Neurol. 2012;32:42-50 pubmed publisher
  8. Reuber B, Germain Lee E, Collins C, Morrell J, Ameritunga R, Moser H, et al. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet. 1997;17:445-8 pubmed
    ..These data demonstrate an important role for PEX1 in peroxisome biogenesis and suggest that mutations in this gene are the most common cause of the PBDs...
  9. Raymond G. Peroxisomal disorders. Curr Opin Neurol. 2001;14:783-7 pubmed
    ..X-linked adrenoleukodystrophy, representing the other group of peroxisomal disorders, is caused by the lack of the adrenoleukodystrophy protein, with an accumulation of very long chain fatty ..
  10. Faust P, Kaye E, Powers J. Myelin lesions associated with lysosomal and peroxisomal disorders. Expert Rev Neurother. 2010;10:1449-66 pubmed publisher
    Abnormalities of myelin are common in lysosomal and peroxisomal disorders. Most display a primary loss of myelin in which the myelin sheath and/or oligodendrocytes are selectively targeted by diverse pathogenetic processes...
  11. Thoms S, Grønborg S, Gartner J. Organelle interplay in peroxisomal disorders. Trends Mol Med. 2009;15:293-302 pubmed publisher
    ..Whether these contribute to disease pathology is not yet known, but recent findings suggest that this possibility should be considered. Here, we discuss the potential involvement of organelle interplay in peroxisomal disorders.
  12. Ferdinandusse S, Rusch H, van Lint A, Dacremont G, Wanders R, Vreken P. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. J Lipid Res. 2002;43:438-44 pubmed
  13. Baumgartner M, Saudubray J. Peroxisomal disorders. Semin Neonatol. 2002;7:85-94 pubmed
    ..Other peroxisomal disorders share some of these symptoms, but with varying degrees of organ involvement, severity of dysfunction and ..
  14. Weller S, Gould S, Valle D. Peroxisome biogenesis disorders. Annu Rev Genomics Hum Genet. 2003;4:165-211 pubmed
  15. Moser H. Molecular genetics of peroxisomal disorders. Front Biosci. 2000;5:D298-306 pubmed
    Twenty five human peroxisomal disorders have been defined at this time...
  16. Wanders R. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A. 2004;126A:355-75 pubmed
    The group of peroxisomal disorders now includes 17 different disorders with Zellweger syndrome as prototype...
  17. Shimozawa N, Nagase T, Takemoto Y, Funato M, Kondo N, Suzuki Y. Molecular and neurologic findings of peroxisome biogenesis disorders. J Child Neurol. 2005;20:326-9 pubmed
    b>Peroxisomal disorders, an expanding group of genetic disorders in humans, can be grouped into three categories: peroxisome biogenesis disorders, single peroxisomal enzyme deficiencies, and contiguous gene syndrome...
  18. Hubbard W, Moser A, Tortorelli S, Liu A, Jones D, Moser H. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab. 2006;89:185-7 pubmed
    ..There was no overlap between normal subjects versus affected subjects...
  19. Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau W, et al. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nat Genet. 1997;17:449-52 pubmed
    ..Expression of PEX1 rescued the cells from the biogenesis defect in human fibroblasts of complementation group 1 (CG1), the largest PBD complementation group. We show that PEX1 is mutated in CG1 patients...
  20. Agamanolis D, Novak R. Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. Pediatr Pathol Lab Med. 1995;15:503-13 pubmed
    ..There was optic atrophy and cerebellar degeneration. Leukodystrophy in peroxisomal disorders is caused by elevated very long chain fatty acids...
  21. Steinberg S, Dodt G, Raymond G, Braverman N, Moser A, Moser H. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006;1763:1733-48 pubmed
    ..Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly...
  22. Schluter A, Fourcade S, Domènech Estévez E, Gabaldón T, Huerta Cepas J, Berthommier G, et al. PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease. Nucleic Acids Res. 2007;35:D815-22 pubmed
    ..PeroxisomeDB should contribute to the systematic characterization of the peroxisomal proteome and facilitate system biology approaches on the organelle...
  23. Wierzbicki A. Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. Biochem Soc Trans. 2007;35:881-6 pubmed
  24. Chen H, Liu Z, Huang X. Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum Mol Genet. 2010;19:494-505 pubmed publisher
    ..Together our study reveals an indispensable function of pex genes during spermatogenesis and provides a causative link between the phenotypic severity of pex mutants and VLCFA levels...
  25. Ebberink M, Mooijer P, Gootjes J, Koster J, Wanders R, Waterham H. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat. 2011;32:59-69 pubmed publisher
    ..We did not identify any novel genetic complementation group, suggesting that all PEX gene defects resulting in peroxisome deficiency are currently known...
  26. Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, et al. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. J Med Genet. 1999;36:779-81 pubmed
    ..These data suggest that allelic heterogeneity of the PEX gene affects the peroxisomal protein import and functions and regulates the clinical severity in PBD...
  27. Powers J, Moser H. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol. 1998;8:101-20 pubmed
    Neurological dysfunction is a prominent feature of most peroxisomal disorders. Enormous progress in defining their gene defects has been achieved...
  28. Dranchak P, Di Pietro E, Snowden A, Oesch N, Braverman N, Steinberg S, et al. Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem. 2011;112:1250-8 pubmed publisher
    ..Furthermore, we suggest that the described cell culture assay systems could be useful for evaluating and screening for novel nonsense suppressor therapies...
  29. Wanders R, Waterham H. Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta. 2006;1763:1707-20 pubmed
    b>Peroxisomal disorders are a group of inherited diseases in man in which either peroxisome biogenesis or one or more peroxisomal functions are impaired...
  30. Wanders R. Peroxisomes, lipid metabolism, and peroxisomal disorders. Mol Genet Metab. 2004;83:16-27 pubmed
    ..Finally, the current state of knowledge with respect to the different disorders of peroxisomal lipid metabolism will be described...
  31. Al Dirbashi O, Santa T, Rashed M, Al Hassnan Z, Shimozawa N, Chedrawi A, et al. Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. J Lipid Res. 2008;49:1855-62 pubmed publisher
    ..tetracosanoic, and docosanoic acids) in plasma is the primary method for investigateing a multitude of peroxisomal disorders (PDs). Typically based on GC-MS, existing methods are time-consuming and laborious...
  32. Wanders R. Peroxisomal disorders: clinical, biochemical, and molecular aspects. Neurochem Res. 1999;24:565-80 pubmed
    ..In this paper we will provide an overview of the peroxisomal disorders with particular emphasis on their clinical, biochemical and molecular characteristics.
  33. Petriv O, Pilgrim D, Rachubinski R, Titorenko V. RNA interference of peroxisome-related genes in C. elegans: a new model for human peroxisomal disorders. Physiol Genomics. 2002;10:79-91 pubmed
    ..elegans as a valuable model system with which to study the molecular and physiological defects underlying the human peroxisomal disorders.
  34. Chang C, Lee W, Moser H, Valle D, Gould S. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet. 1997;15:385-8 pubmed
    ..These data demonstrate that mutations in PEX12 are responsible for CG3 of the PBD and that PEX12 plays an essential role in peroxisomal matrix protein import...
  35. Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, et al. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. Mol Cell Biol. 1998;18:4324-36 pubmed
    ..Moreover, truncation and site mutation studies, including patient PEX12 analysis, demonstrated that the cytoplasmically oriented N- and C-terminal parts of Pex12p are essential for biological function...
  36. Geisbrecht B, Collins C, Reuber B, Gould S. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. Proc Natl Acad Sci U S A. 1998;95:8630-5 pubmed
    ..We conclude that PEX1 and PEX6 form a complex of central importance to peroxisome biogenesis and that mutations affecting this complex constitute the most common cause of the Zellweger syndrome spectrum of diseases...
  37. 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 pubmed
  38. Liu Y, Bjorkman J, Urquhart A, Wanders R, Crane D, Gould S. PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. Am J Hum Genet. 1999;65:621-34 pubmed
    ..Taken together, these results provide strong evidence that mutations in PEX13 are responsible for disease in patient PBD222 and, by extension, in complementation group 13 of the PBDs...
  39. Johnson D. A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry. J Inherit Metab Dis. 2000;23:475-86 pubmed
    A rapid method with potential to screen for many of the peroxisomal disorders using 5 microl of plasma or a 3-mm blood spot (3.6 microl blood impregnated on filter paper) is described...
  40. Smith K, DiPreta E, Skelton H. Peroxisomes in dermatology. Part II. J Cutan Med Surg. 2001;5:315-22 pubmed
    ..To review genetically determined peroxisomal disorders, especially those that particularly affect the skin, and some recent information on the specific genetic ..
  41. Subramani S. Convergence of model systems for peroxisome biogenesis. Curr Opin Cell Biol. 1996;8:513-8 pubmed
    ..the gene encoding its human homolog, PTS1R, which is mutated in a group of patients afflicted with fatal peroxisomal disorders. The identification of peroxisome assembly genes in yeasts is likely to lead to the cloning of additional ..
  42. Chang Y, Huang C, Huang S, Hung F. Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature. Pediatr Neurol. 2008;38:137-9 pubmed publisher
    ..These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates. ..
  43. Wanders R. Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction. Subcell Biochem. 2013;69:23-44 pubmed publisher
    ..The current state of knowledge in this area will be discussed in this review. ..
  44. Herzog K, Pras Raves M, Ferdinandusse S, Vervaart M, Luyf A, van Kampen A, et al. Plasma lipidomics as a diagnostic tool for peroxisomal disorders. J Inherit Metab Dis. 2018;41:489-498 pubmed publisher
    Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with ..
  45. Steinberg S, Katsanis S, Moser A, Cutting G. Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection. J Med Genet. 2005;42:38-44 pubmed
    The prenatal diagnosis of peroxisomal disorders is most often performed by biochemical analysis of cultured chorionic villus sample (CVS) or amniocytes...
  46. Clayton P. Clinical consequences of defects in peroxisomal beta-oxidation. Biochem Soc Trans. 2001;29:298-305 pubmed
  47. Duranti G, Boenzi S, Rizzo C, Rava L, Di Ciommo V, Carrozzo R, et al. Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. Clin Chim Acta. 2008;398:86-9 pubmed publisher
    ..e. elevated C16:0-DC-, C18:0-DC-, C24:0-, C26:0-carnitine). We developed an ESI-MS/MS method for quantification of urine acylcarnitines and tested its reliability for the diagnosis of PBDs...
  48. Elias E, Mobassaleh M, Hajra A, Moser A. Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am J Med Genet. 1998;80:223-6 pubmed
    ..Epiphyseal stippling is present. This patient illustrates the variability of peroxisomal disorders whereby a specific defect in peroxisomal plasmalogen synthesis may lead to several phenotypes...
  49. Farooqui A, Ong W, Horrocks L. Plasmalogens, docosahexaenoic acid and neurological disorders. Adv Exp Med Biol. 2003;544:335-54 pubmed
  50. Fujiki Y, Okumoto K, Otera H, Tamura S. Peroxisome biogenesis and molecular defects in peroxisome assembly disorders. Cell Biochem Biophys. 2000;32 Spring:155-64 pubmed
    ..Furthermore, we have isolated novel CGs of CHO mutants, ZP119 and ZP126. ..
  51. de Vet E, Biermann J, van den Bosch H. Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. Eur J Biochem. 1997;247:511-7 pubmed
    ..The absence of this band in liver of Zellweger syndrome and Rhizomelic chondrodysplasia punctata patients provides strong evidence that it represents the human homolog of this enzyme. ..
  52. Purdue P, Lazarow P. Peroxisome biogenesis. Annu Rev Cell Dev Biol. 2001;17:701-52 pubmed
  53. Yamaguchi S, Iga M, Kimura M, Suzuki Y, Shimozawa N, Fukao T, et al. Urinary organic acids in peroxisomal disorders: a simple screening method. J Chromatogr B Biomed Sci Appl. 2001;758:81-6 pubmed
    Using GC-MS, we studied urinary organic acids in 20 Japanese patients with peroxisomal disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and single deficiency of peroxisomal beta-oxidation enzymes...
  54. Powers J. Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders. J Mol Neurosci. 2001;16:285-7; discussion 317-21 pubmed
    Neuronal involvement in the peroxisomal disorders is divided into two main groups: developmental and postdevelopmental or degenerative...
  55. Wanders R. Peroxisomes, lipid metabolism, and human disease. Cell Biochem Biophys. 2000;32 Spring:89-106 pubmed
    ..This article describes the current state of knowledge concerning the role of peroxisomes in these processes, especially in relation to various peroxisomal disorders in which there is an impairment in peroxisomal lipid metabolism.
  56. Shaheen R, Al Dirbashi O, Al Hassnan Z, Al Owain M, Makhsheed N, Basheeri F, et al. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Clin Genet. 2011;79:60-70 pubmed publisher
    ..out critical metabolic reactions perturbation of which leads to an array of clinical phenotypes known as peroxisomal disorders (PD)...
  57. Labadaridis I, Moraitou M, Theodoraki M, Triantafyllidis G, Sarafidou J, Michelakakis H. Plasmalogen levels in full-term neonates. Acta Paediatr. 2009;98:640-2 pubmed publisher
    ..The functions attributed to them include protection against oxidative stress, myelin formation and signal transduction. The aim of the present study was the investigation of RBC plasmalogen levels in neonates...
  58. Groenendaal F, Bianchi M, Battini R, Tosetti M, Boldrini A, de Vries L, et al. Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Neuropediatrics. 2001;32:23-7 pubmed
  59. Smith K, Skelton H. Peroxisomal proliferator-activated ligand therapy for HIV lipodystrophy. Clin Exp Dermatol. 2001;26:155-61 pubmed
    ..Supplementation with DHEA and a COX inhibitor may improve peroxisomal function...
  60. Garcia Ribes A, Martínez González M, Garcia Cazorla A. [Adult-onset metabolic diseases]. An Sist Sanit Navar. 2008;31 Suppl 2:75-89 pubmed
    ..This article provides a practical approach that deals with the general characteristics and the clinical keys for suspecting the most usual IEMs in the adult...
  61. Van Maldergem L, Moser A, Vincent M, Roland D, Reding R, Otte J, 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 pubmed
    ..Abnormal bile acids disappeared from plasma. Although the OLT did not result in a cure of the disorder, the clinical and biochemical results suggest that OLT should be considered in mildly symptomatic patients...
  62. Girzalsky W, Platta H, Erdmann R. Protein transport across the peroxisomal membrane. Biol Chem. 2009;390:745-51 pubmed publisher
    ..In this brief review, we will summarize our current knowledge on the import of soluble proteins into the peroxisomal matrix...
  63. Leipnitz G, Amaral A, Fernandes C, Seminotti B, Zanatta A, Knebel L, et al. Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders. Brain Res. 2011;1382:259-65 pubmed publisher
    Pristanic acid (Prist) is accumulated in various peroxisomal disorders characterized by severe neurological dysfunction whose pathogenesis is poorly understood...
  64. van Grunsven E, Mooijer P, Aubourg P, Wanders R. Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. Hum Mol Genet. 1999;8:1509-16 pubmed
  65. Waterham H, Wanders R. Metabolic functions and biogenesis of peroxisomes in health and disease. Biochim Biophys Acta. 2012;1822:1325 pubmed publisher
  66. Sheikh F, Pahan K, Khan M, Barbosa E, Singh I. Abnormality in catalase import into peroxisomes leads to severe neurological disorder. Proc Natl Acad Sci U S A. 1998;95:2961-6 pubmed
    b>Peroxisomal disorders are lethal inherited diseases caused by either defects in peroxisome assembly or dysfunction of single or multiple enzymatic function(s)...