A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder

2010 ◽  
Vol 152A (9) ◽  
pp. 2318-2321 ◽  
Author(s):  
Sarar Mohamed ◽  
Ebtisam El-Meleagy ◽  
Abdelhaleem Nasr ◽  
Merel S. Ebberink ◽  
Ronald J.A. Wanders ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder

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 Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

2016 ◽  
Vol 62 (9) ◽  
pp. 1248-1254 ◽  
Author(s):  
Silvia Tortorelli ◽  
Coleman T Turgeon ◽  
Dimitar K Gavrilov ◽  
Devin Oglesbee ◽  
Kimiyo M Raymond ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Flow Injection ◽  
Lysosomal Storage Disorders ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder ◽  
Storage Disorders

Abstract BACKGROUND Newborn screening for lysosomal storage disorders (LSD) has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis. We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal disorders in patients presenting with diverse phenotypes at any age. METHODS Three 3-mm dried blood spot (DBS) punches were placed into individual microtiter plates. One disc was treated with a cocktail containing acid sphingomyelinase-specific substrate and internal standard (IS). To the second DBS we added a cocktail containing substrate and IS for β-glucosidase, acid α-glucosidase, α-galactosidase A, galactocerebrosidase, and α-L-iduronidase. The third DBS was extracted with methanol containing d4-C26 lysophosphatidylcholine as IS and stored until the enzyme plates were combined and purified by liquid–liquid and solid-phase extraction. The extracts were evaporated, reconstituted with the extract from the lysophosphatidylcholine plate, and analyzed by flow injection tandem mass spectrometry. RESULTS Reference intervals were determined by analysis of 550 samples from healthy controls. DBS from confirmed patients with 1 of the 6 LSDs (n = 33), X-adrenoleukodystrophy (n = 9), or a peroxisomal biogenesis disorder (n = 5), as well as carriers for Fabry disease (n = 17) and X-adrenoleukodystrophy (n = 5), were analyzed for assay validation. Prospective clinical testing of 578 samples revealed 25 patients affected with 1 of the detectable conditions. CONCLUSIONS Our flow injection tandem mass spectrometry approach is amenable to high-throughput population screening for Hurler disease, Gaucher disease, Niemann–Pick A/B disease, Pompe disease, Krabbe disease, Fabry disease, X-adrenoleukodystrophy, and peroxisomal biogenesis disorder in DBS.

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder

2016 ◽  
Vol 20 (2) ◽  
pp. 331-335 ◽  
Author(s):  
Natalia Lüsebrink ◽  
Luciana Porto ◽  
Hans R. Waterham ◽  
Sacha Ferdinandusse ◽  
Hendrik Rosewich ◽  
...  
Keyword(s):  
Early Age ◽  
Biochemical Evidence ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder

2020 ◽  
Author(s):  
Maha S. Zaki ◽  
Mahmoud Y. Issa ◽  
Manal M. Thomas ◽  
Hasnaa M. Elbendary ◽  
Karima Rafat ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Peroxisomal Biogenesis ◽  
Egyptian Patients ◽  
Peroxisomal Biogenesis Disorder

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

1996 ◽  
Vol 804 (1 Peroxisomes) ◽  
pp. 747-749 ◽  
Author(s):  
M. GIRÓS ◽  
F. ROELS ◽  
J. PRATS ◽  
M. RUIZ ◽  
A. RIBES ◽  
...  
Keyword(s):  
Long Survival ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder

scholarly journals A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

2002 ◽  
Vol 70 (4) ◽  
pp. 1062-1068 ◽  
Author(s):  
Annick Raas-Rothschild ◽  
Ronald J.A. Wanders ◽  
Petra A.W. Mooijer ◽  
Jeannette Gootjes ◽  
Hans R. Waterham ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Severe Phenotype ◽  
Mild Phenotype ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder
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