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 Martínez, Elida Vázquez, M Teresa García-Silva, Javier Manzanares, José M Bertran, Francisco Castelló, Isabel Mougan

The American Journal of Clinical Nutrition, Volume 71, Issue 1, 1 January 2000, Pages 376s–385s, https://doi.org/10.1093/ajcn/71.1.3s76

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

https://www.researchgate.net/publication/323705701_Inborn_Errors_of_Metabolism_Involving_Complex_Molecules_Lysosomal_and_Peroxisomal_Storage_Diseases 

 

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 © 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

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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

https://journals.lww.com/topicsinmri/Abstract/2018/08000/Clinical_and_Neuroimaging_Spectrum_of_Peroxisomal.4.aspx

 

 

Vision

 

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/s10545-017-0113-8