Zellweger Spectrum Disorder Information
General Information
When Your Child Has a Zellweger’s Spectrum Disorder
https://www.understandingzsd.com/
Peroxisomal disorders and their treatment
Manuela Martinez, MD
Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders
Manuela Martinez, Elida Vazquez, M Teresa Garcia-Silva, Javier Manzanares, Jose M Bertan, Francissco Castello, Isabel Mougan
The American Journal of Clinical Nutrition, Volume 71, Issue 1, 1 January 2000, Pages 376s-385s, https://doi.org/10/1093/ajcn/71.1.3s66
https://academic.oup.com/ajcn/article/71/1/376s/4729595
Zellweger Spectrum Disorders
https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/
Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases
Cinzia Maria Bellettato, Leroy Hubert, Maurizio Scarpa, Michael Wangler
Pediatric Clinics of North America 65(2):353-373, April 2018
Essential Dietary Bioactive Lipids in Neuroinflammatory Diseases
Maria Valeria Catani, Valeria Gasperi, Tiziana Bisogno, and Mauro Maccarrone
ANTIOXIDANTS & REDOX SIGNALING; Volume 29, Number 1, 2018
Mary Ann Liebert, Inc.; DOI: 10.1089/ars.2016.6958
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984567/?report=reader
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)
Mikako Warren, Gary Mierau, Eric P. Wartchow, Hiroyuki Shimada & Shoji Yano
https://doi.org/10.1080/01913123.2018.1440272
Liver Dysfunction and Treatment in Zellweger Spectrum Disorder
Testing for Liver Dysfunction in ZSD
https://www.cholbam.com/zellweger-spectrum-disorders/diagnosis/
Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder
James E Heubi, Warren P. Bishop
Case Rep Gastroenteroly, Nov 2018, DOI: 10.1159/000494555 Copyright 2018
The Author(s) Published by S. Karger AG, Basel www.karger.com/crg
https://www.karger.com/Article/FullText/494555
Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders
James E. Heubi, Kenneth D.R. Setchell, Kevin E. Bove
Case Rep Gastroenterol, Jun 2018, DOI: 10.1159/000490095
© 2018 The Author(s) Published by S. Karger AG, Basel www.karger.com/crg
https://www.karger.com/Article/FullText/490095
Inborn Errors of Bile Acid Metabolism
James E. Heubi, MD, Kenneth D.R. Setchell, PhD, Kevin E. Bove, MD
Clin Liver Dis 22 (2018) 671–687 https://doi.org/10.1016/j.cld.2018.06.006 liver.theclinics.com 1089-3261/18/ª 2018 Elsevier Inc.
https://www.ncbi.nlm.nih.gov/pubmed/30266156
Nutrition and Liver Disease
Claudia Mandato, Antonella Di Nuzzi, and Pietro Vajro
Nutrients, 23 December 2017
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793237/pdf/nutrients-10-00009.pdf
EASL Clinical Practice Guidelines on nutrition in chronic liver disease
European Association for the Study of the Liver
JOURNAL OF HEPATOLOGY, 2018
https://www.journal-of-hepatology.eu/article/S0168-8278(18)32177-9/pdf
ESPEN guideline on clinical nutrition in liver disease
Mathias Plauth, William Bernal, Srinivasan Dasarathy, Manuela Merli, Lindsay D. Plank, Tatjana Schütz, Stephan C. Bischoff
Clinical Nutrition 38 (2019) 485e521
https://www.clinicalnutritionjournal.com/article/S0261-5614(18)32590-1/pdf
Genetics and Epigenetics of Zellweger Spectrum Disorder
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations
H Rosewich, A Ohlenbusch, J Gärtner
Journal of Medical Genetics, 2005;42:e58
https://jmg.bmj.com/content/42/9/e58.short
Peroxisome biogenesis in mammalian cells: The impact of genes and environment
Rebecca L. Farr, Celien Lismont, Stanley R. Terlecky, MarcFransena
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1863, Issue 5, May 2016, Pages 1049-1060
https://www.sciencedirect.com/science/article/pii/S0167488915002803
Peroxisomes
Metabolic functions and biogenesis of peroxisomes in health and disease
Hans R.Waterham, Ronald J.A.Wanders
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1822, Issue 9, September 2012, Page 1325
https://www.sciencedirect.com/science/article/pii/S0925443912001354
Peroxisome biogenesis disorders: Molecular basis for impaired peroxisomal membrane assembly: In metabolic functions and biogenesis of peroxisomes in health and disease
Yukio Fujiki, Yuichi Yagita, Takashi Matsuzaki
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1822, Issue 9, September 2012, Pages 1337-1342
https://www.sciencedirect.com/science/article/pii/S092544391200138X
Fission and proliferation of peroxisomes
M.Schrader, N.A.Bonekamp, M.Islinger
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1822, Issue 9, September 2012, Pages 1343-1357
https://www.sciencedirect.com/science/article/pii/S0925443911002997
Peroxisomes in brain development and function
Johannes Berger, Fabian Dorninger, SonjaForss-Petter, MarkusKunze
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1863, Issue 5, May 2016, Pages 934-955
https://www.sciencedirect.com/science/article/pii/S0167488915004267
Peroxisomal protein import pores
Michael Meinecke, Philipp Bartsch, RichardWagner
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1863, Issue 5, May 2016, Pages 821-827
https://www.sciencedirect.com/science/article/pii/S0167488915003663
Structural biology of the import pathways of peroxisomal matrix proteins
Leonidas Emmanouilidis, Mohanraj Gopalswamy, Daniel M. Passon, Matthias Wilmanns, Michael Sattler
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1863, Issue 5, May 2016, Pages 804-813
https://www.sciencedirect.com/science/article/pii/S0167488915003468
Mitochondria
Mitochondrial Alterations Caused by Defective Peroxisomal Biogenesis in a Mouse Model for Zellweger Syndrome (PEX5 Knockout Mouse)
Eveline Baumgart, Ilse Vanhorebeek, Markus Grabenbauer, Marcel Borgers, Peter E. Declercq, H. Dariush Fahimi, and Myriam Baes
Am J Pathol. 2001 Oct; 159(4): 1477–1494.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1850512/
Shared components of mitochondrial and peroxisomal division
Michael Schrader
Biochimica et Biophysica Acta (BBA) – Molecular Cell Research
Volume 1763, Issues 5–6, May–June 2006, Pages 531-541
https://www.sciencedirect.com/science/article/pii/S0167488906000176
Neurology in Zellweger Spectrum Disorder
Modulation of inflammation in brain: a matter of fat
Akhlaq A. Farooqui , Lloyd A. Horrocks, Tahira Farooqui
Journal of Neurochemistry, January 25, 2007
https://doi.org/10.1111/j.1471-4159.2006.04371.x
Zellweger’s Syndrome Restoring the DHA Levels in the Brains of Zellweger Patients
J Mol Neurosci. 2001 Apr-Jun;16(2-3):309-16
http://www.ncbi.nlm.nih.gov/pubmed/11478386
Myelin peroxisomes – Essential organelles for the maintenance of white matter in the nervous system
Biochimie, Volume 98, 2014, pp. 111-118
Celia M. Kassmann
Clinical and Neuroimaging Spectrum of Peroxisomal Disorders
Tan, Ai Peng, MD; Gonçalves, Fabrício Guimarães, MD; Almehdar, Abeer, MD; Soares, Bruno Passebon, MD
Topics in Magnetic Resonance Imaging: August 2018 – Volume 27 – Issue 4 – p 241–257
Vision
Disruption of glucose transport to rods and cones shown to cause vision loss in RP
Douglas Dean, Ph.D., and Wei Wang, M.D., Ph.D.
https://eurekalert.org/pub_releases/2019-07/uol-dog073019.php#.XUGlNGveG_c.email
Visual Follow-Up in Peroxisomal-Disorder Patients Treated with Docosahexaenoic Acid Ethyl Ester
Teresa Noguer; Manuela Martinez
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2277-2285. doi:10.1167/iovs.09-4020
https://iovs.arvojournals.org/article.aspx?articleid=2186379
Rescue and repair during photoreceptor cell renewal mediated by docosahexaenoic acid-derived neuroprotectin D1
http://www.jlr.org/content/51/8/2018.full.pdf
Journal of Lipid Research, Volume 51 2010
Nicolas G. Bazan , 1, * Jorgelina M. Calandria, * and Charles N. Serhan
Novel retinal findings in peroxisomal biogenesis disorders
BE O’Bryhim, BA Kozel & GT Lueder
(2018) Ophthalmic Genetics, DOI: 10.1080/13816810.2018.1430241
To link to this article: https://doi.org/10.1080/13816810.2018.1430241
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease) Case Report
Mikako Warren, Gary Mierau, Eric P. Wartchow, Hiroyuki Shimada & Shoji Yano
Pages 220-227 | Received 09 Jan 2018, Accepted 09 Feb 2018, Published online: 26 Feb 2018
Ultrastructural Pathology, Vol 42, 2018 https://doi.org/10.1080/01913123.2018.1440272
Hearing
Audiological findings in Infantile Refsum disease
V.P. Vandana Parayil, Sankaran Bindu, MadhuNagappa, SanjibSinha, Arun B.Taly
Int J Pediatr Otorhinolaryngol. 2015 Aug;79(8):1366-9. doi: 10.1016/j.ijporl.2015.05.023. Epub 2015 May 30, abstract
https://www.ncbi.nlm.nih.gov/pubmed/26055198
Adrenal Insufficiency
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
Kevin Berendse, Marc Engelen, Gabor E Linthorst, AS Paul van Trotsenburg and Bwee Tien Poll-The
Orphanet Journal of Rare Diseases 2014 9:133
https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0133-5
Bone density
Low bone mineral density is a common feature of Zellweger spectrum disorders
Eric T. Rush, Jennifer L. Goodwin, Nancy E. Braverman, William B. Rizzo
Molecular Genetics and Metabolism 117 (2016) 33-37
Fatty acid metabolism by the osteoblast
Priyanka Kushwaha, Michael J.Wolfgang, Ryan C.Riddle
Bone Volume 115, October 2018, Pages 8-14
https://www.sciencedirect.com/science/article/pii/S8756328217303186
Ataxia
Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism
Trishna Kantamneni MD, Lileth Mondok MD, Sumit Parikh MD
Pediatric Clinics of North America
Volume 65, Issue 2, April 2018, Pages 301-315
https://www.sciencedirect.com/science/article/pii/S0031395517301852
Kidney issues in Zellweger Spectrum Disorders
High incidence of hyperoxaluria in generalized peroxisomal disorders
Christiaan S. van Woerden, Jaap W.Groothoff, Frits A.Wijburg, MarinusDuran, Ronald J.A.Wanders, Peter G.Barth, Bwee TienPoll-The
Molecular Genetics and Metabolism
Volume 88, Issue 4, August 2006, Pages 346-350
https://www.ncbi.nlm.nih.gov/pubmed/16621644
Renal oxalate stones in children with Zellweger spectrum disorders
Hamdan Hammad Alhazmi
Saudi Journal of Anesthesia/Volume 12 / Issue 2 / April-June 2018
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875229/
Metabolic functions in Zellweger Spectrum Disorders
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
Femke C. C. Klouwer, Sacha Ferdinandusse, Henk van Lenthe, Wim Kulik, Ronald J. A.Wanders, Bwee Tien Poll-The, Hans R.Waterham, Frédéric M.Vaz
J Inherit Metab Dis (2017) 40:875–881
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-017-0064-0
The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: Differences between normal controls and children with the Zellweger syndrome
Manuela Martinez, Natalia Ichaso, Fernando Setien, Nuria Durany, Xiao Qiu, and William Roesler
Lipids in Health and Disease, Sept 9, 2010
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949860/
Metabolic functions and biogenesis of peroxisomes in health and disease
Hans R.Waterham, Ronald J.A.Wanders
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1822, Issue 9, September 2012, Page 1325
https://www.sciencedirect.com/science/article/pii/S0925443912001354
Human disorders of peroxisome metabolism and biogenesis
Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders
Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease
Volume 1863, Issue 5, May 2016, Pages 922-933
https://www.sciencedirect.com/science/article/pii/S0167488915003997
Coagulopathy in ZSD
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
Sara Zeynelabidin, Femke C. C. Klouwer, Joost C. M. Meijers, Monique H. Suijker, Marc Engelen, Bwee Tien Poll-The, C. Heleen van Ommen
J Inherit Metab Dis (2018) 41:249–255
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-017-0113-