Session 4 Roundtable Discussion: The Roles of DHA in Zellweger Syndrome, A Representative Peroxisomal Biogenesis Disorder

2001 ◽  
Vol 16 (2-3) ◽  
pp. 317-322
Author(s):  
N/A N/A
Keyword(s):  
Zellweger Syndrome ◽  
Roundtable Discussion ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder

Chemical chaperones improve peroxisomal biogenesis in fibroblasts of mild Zellweger syndrome spectrum patients

2013 ◽  
Vol 81 (S1) ◽  
pp. 21-21
Author(s):  
Kevin Berendse ◽  
Merel S. Ebberink ◽  
Lodewijk IJlst ◽  
Bwee Tien Poll-The ◽  
Ronald J.A. Wanders ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Chemical Chaperones ◽  
Peroxisomal Biogenesis

Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation

2020 ◽  
Vol 33 (3) ◽  
pp. 437-441
Author(s):  
Cengiz Havali ◽  
Sevil Dorum ◽  
Yılmaz Akbaş ◽  
Orhan Görükmez ◽  
Tugba Hirfanoglu
Keyword(s):  
Missense Mutation ◽  
Zellweger Syndrome ◽  
Failure To Thrive ◽  
Severe Form ◽  
Oral Feeding ◽  
Missense Mutations ◽  
Multisystem Disease ◽  
Homozygous Missense Mutation ◽  
Peroxisomal Biogenesis ◽  
Severe Hypotonia

AbstractBackgroundPeroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs.Case presentationPatient 1 is a 4-month-old boy who was affected by myoclonic seizures, poor oral feeding since birth. The patient was hypotonic and had hepatosplenomegaly. Patient 2 is a 2-month-old boy who presented with decreased movement, severe hypotonia and failure to thrive. The laboratory studies of the patients revealed increased plasma very-long-chain fatty acids (VLCFAs). The genetic analyses of patient 1 demonstrated the first homozygous missense mutation in the PEX10 gene. A novel homozygous missense mutation was found in the PEX1 gene in patient 2.ConclusionsThis report highlights that the detected homozygous missense mutations of PEX10 and PEX1 genes and the substitutions of specific amino acids lead to the severe form of PBDs.

A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder

2015 ◽  
Vol 42 (9) ◽  
pp. 1359-1363
Author(s):  
Jana Konkoľová ◽  
Robert Petrovič ◽  
Ján Chandoga ◽  
Edita Halasová ◽  
Petra Jungová ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder

scholarly journals Dysmorphic features in a newborn with neurological, liver and kidney involvement by defective peroxisomal biogenesis. Case report

Case reports ◽  
2020 ◽  
Vol 6 (1) ◽  
pp. 17-24
Author(s):  
Yolanda Cifuentes ◽  
Clara Arteaga
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Zellweger Syndrome ◽  
Inborn Errors ◽  
Biochemical Alterations ◽  
Dysmorphic Features ◽  
Peroxisomal Biogenesis ◽  
Heart Involvement ◽  
Kidney Involvement ◽  
Liver And Kidney ◽  
Initial Description

Introduction: Inborn errors of metabolism have significant morbidity and mortality rates in the neonatal period. One of these disorders is defective peroxisomal biogenesis, which causes complex and severe clinical pictures because peroxisomes are present in all nucleated cells of mammals.Case presentation: This is the case of a newborn with dysmorphic features who had seizures at birth and presented with neurological, liver, kidney and heart involvement during her 20 days of life. Necropsy confirmed liver and kidney involvement, which, together with family history of death of a sibling and a cousin, led to suspect a peroxisomal disease that was confirmed by the biochemical alterations observed.Discussion: Dysmorphism and seizures at birth may be an expression of a metabolic disease. The findings of the physical examination and the demonstration of liver, kidney and heart involvement are consistent with the initial description of Zellweger syndrome; the biochemical alterations are conclusive.Conclusions: It is necessary to define if dysmorphism is an isolated finding or if there is involvement of other organ(s) or system(s) to establish a suitable diagnosis of peroxisome biogenesis. Inborn errors of metabolism should be included in the diagnosis of dysmorphic newborns when several organs are involved, since their identification enables genetic counseling.

scholarly journals Targeted Deletion of the PEX2 Peroxisome Assembly Gene in Mice Provides a Model for Zellweger Syndrome, a Human Neuronal Migration Disorder

1997 ◽  
Vol 139 (5) ◽  
pp. 1293-1305 ◽  
Author(s):  
Phyllis L. Faust ◽  
Mary E. Hatten
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neuronal Migration ◽  
Zellweger Syndrome ◽  
Peroxisomal Biogenesis ◽  
Migration Disorder ◽  
Assembly Factor ◽  
The Central Nervous System ◽  
Deficient Mice ◽  
Peroxisomal Function

Zellweger syndrome is a peroxisomal biogenesis disorder that results in abnormal neuronal migration in the central nervous system and severe neurologic dysfunction. The pathogenesis of the multiple severe anomalies associated with the disorders of peroxisome biogenesis remains unknown. To study the relationship between lack of peroxisomal function and organ dysfunction, the PEX2 peroxisome assembly gene (formerly peroxisome assembly factor-1) was disrupted by gene targeting. Homozygous PEX2-deficient mice survive in utero but die several hours after birth. The mutant animals do not feed and are hypoactive and markedly hypotonic. The PEX2-deficient mice lack normal peroxisomes but do assemble empty peroxisome membrane ghosts. They display abnormal peroxisomal biochemical parameters, including accumulations of very long chain fatty acids in plasma and deficient erythrocyte plasmalogens. Abnormal lipid storage is evident in the adrenal cortex, with characteristic lamellar–lipid inclusions. In the central nervous system of newborn mutant mice there is disordered lamination in the cerebral cortex and an increased cell density in the underlying white matter, indicating an abnormality of neuronal migration. These findings demonstrate that mice with a PEX2 gene deletion have a peroxisomal disorder and provide an important model to study the role of peroxisomal function in the pathogenesis of this human disease.

scholarly journals Mitochondrial Alterations Caused by Defective Peroxisomal Biogenesis in a Mouse Model for Zellweger Syndrome (PEX5 Knockout Mouse)

2001 ◽  
Vol 159 (4) ◽  
pp. 1477-1494 ◽  
Author(s):  
Eveline Baumgart ◽  
Ilse Vanhorebeek ◽  
Markus Grabenbauer ◽  
Marcel Borgers ◽  
Peter E. Declercq ◽  
...  
Keyword(s):  
Mouse Model ◽  
Knockout Mouse ◽  
Zellweger Syndrome ◽  
Peroxisomal Biogenesis ◽  
Mitochondrial Alterations
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