Literature DB >> 24268529

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Christiane Theda1, Katy Gibbons2, Todd E Defor3, Pamela K Donohue4, W Christopher Golden5, Antonie D Kline6, Fizza Gulamali-Majid7, Susan R Panny7, Walter C Hubbard8, Richard O Jones2, Anita K Liu2, Ann B Moser2, Gerald V Raymond9.   

Abstract

X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C26:0 lysophosphatidylcholine reliably identifies affected males. We prospectively applied this method to 4689 newborn blood spot samples; no false positives were observed. We show that high throughput neonatal screening for ALD is methodologically feasible.
Copyright © 2013 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ALD; AMN; Adrenal insufficiency; Adrenoleukodystrophy; Adrenomyeloneuropathy; LC MS/MS; Lyso-PC; MRI; Magnetic resonance imaging; NDBS; Newborn screening; Peroxisomal disorders; Tandem mass spectrometry; adrenoleukodystrophy; adrenomyeloneuropathy; liquid chromatography tandem mass spectrometry; lysophosphatidylcholine; newborn dried blood spots

Mesh：

Substances：

Year:  2013        PMID： 24268529      PMCID： PMC3935823          DOI： 10.1016/j.ymgme.2013.10.019

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  19 in total

1.  Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.

Authors:  Lynda E Polgreen; Saydi Chahla; Weston Miller; Steven Rothman; Jakub Tolar; Teresa Kivisto; David Nascene; Paul J Orchard; Anna Petryk
Journal:  Eur J Pediatr       Date:  2011-01-29       Impact factor: 3.183

2.  Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.

Authors:  Walter C Hubbard; Ann B Moser; Silvia Tortorelli; Anita Liu; David Jones; Hugo Moser
Journal:  Mol Genet Metab       Date:  2006-07-07       Impact factor: 4.797

Review 3.  Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy.

Authors:  Nathalie Cartier; Patrick Aubourg
Journal:  Brain Pathol       Date:  2010-07       Impact factor: 6.508

4.  Coma as an acute presentation of adrenoleukodystrophy.

Authors:  S Ravid; A S Diamond; L Eviatar
Journal:  Pediatr Neurol       Date:  2000-03       Impact factor: 3.372

5.  X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Authors:  Ying Wang; Rachel Busin; Catherine Reeves; Lena Bezman; Gerald Raymond; Cicely J Toomer; Paul A Watkins; Ann Snowden; Ann Moser; Sakkubai Naidu; Genila Bibat; Stacy Hewson; Karen Tam; Joe T R Clarke; Lawrence Charnas; Gail Stetten; Barbara Karczeski; Garry Cutting; Steven Steinberg
Journal:  Mol Genet Metab       Date:  2011-06-22       Impact factor: 4.797

6.  Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.

Authors:  Weston P Miller; Steven M Rothman; David Nascene; Teresa Kivisto; Todd E DeFor; Richard S Ziegler; Julie Eisengart; Kara Leiser; Gerald Raymond; Troy C Lund; Jakub Tolar; Paul J Orchard
Journal:  Blood       Date:  2011-05-17       Impact factor: 22.113

7.  Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.

Authors:  Charles Peters; Lawrence R Charnas; Ye Tan; Richard S Ziegler; Elsa G Shapiro; Todd DeFor; Satkiran S Grewal; Paul J Orchard; Susan L Abel; Anne I Goldman; Norma K C Ramsay; Kathryn E Dusenbery; Daniel J Loes; Lawrence A Lockman; Shunichi Kato; Patrick R Aubourg; Hugo W Moser; William Krivit
Journal:  Blood       Date:  2004-04-08       Impact factor: 22.113

8.  Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

Authors:  D J Loes; A Fatemi; E R Melhem; N Gupte; L Bezman; H W Moser; G V Raymond
Journal:  Neurology       Date:  2003-08-12       Impact factor: 9.910

9.  Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.

Authors:  E Zammarchi; M A Donati; F Tucci; C Fonda; F Fanelli; R Pazzaglia
Journal:  Brain Dev       Date:  1994 May-Jun       Impact factor: 1.961

10.  Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study.

Authors:  Asif Mahmood; Gerald V Raymond; Prachi Dubey; Charles Peters; Hugo W Moser
Journal:  Lancet Neurol       Date:  2007-08       Impact factor: 44.182
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  24 in total

Review 1.  Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Authors:  Nancy E Braverman; Gerald V Raymond; William B Rizzo; Ann B Moser; Mark E Wilkinson; Edwin M Stone; Steven J Steinberg; Michael F Wangler; Eric T Rush; Joseph G Hacia; Mousumi Bose
Journal:  Mol Genet Metab       Date:  2015-12-23       Impact factor: 4.797

2.  Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Authors:  David Cheillan
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

3.  Disease specific therapies in leukodystrophies and leukoencephalopathies.

Authors:  Guy Helman; Keith Van Haren; Joshua L Bonkowsky; Genevieve Bernard; Amy Pizzino; Nancy Braverman; Dean Suhr; Marc C Patterson; S Ali Fatemi; Jeff Leonard; Marjo S van der Knaap; Stephen A Back; Stephen Damiani; Steven A Goldman; Asako Takanohashi; Magdalena Petryniak; David Rowitch; Albee Messing; Lawrence Wrabetz; Raphael Schiffmann; Florian Eichler; Maria L Escolar; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2015-02-07       Impact factor: 4.797

4.  Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.

Authors:  Christopher A Haynes; Víctor R De Jesús
Journal:  Clin Biochem       Date:  2015-10-01       Impact factor: 3.281

5.  Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.

Authors:  Bela R Turk; Benjamin E Theisen; Christina L Nemeth; Joel S Marx; Xiaohai Shi; Melissa Rosen; Richard O Jones; Ann B Moser; Paul A Watkins; Gerald V Raymond; Carol Tiffany; Ali Fatemi
Journal:  JAMA Neurol       Date:  2017-05-01       Impact factor: 18.302

Review 6.  Glial progenitor cell-based treatment of the childhood leukodystrophies.

Authors:  M Joana Osorio; Steven A Goldman
Journal:  Exp Neurol       Date:  2016-05-08       Impact factor: 5.330

7.  Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Authors:  Thais Armangue; Joseph J Orsini; Asako Takanohashi; Francesco Gavazzi; Alex Conant; Nicole Ulrick; Mark A Morrissey; Norah Nahhas; Guy Helman; Heather Gordish-Dressman; Simona Orcesi; Davide Tonduti; Chloe Stutterd; Keith van Haren; Camilo Toro; Alejandro D Iglesias; Marjo S van der Knaap; Raphaela Goldbach Mansky; Anne B Moser; Richard O Jones; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2017-07-20       Impact factor: 4.797

Review 8.  Adulthood leukodystrophies.

Authors:  Wolfgang Köhler; Julian Curiel; Adeline Vanderver
Journal:  Nat Rev Neurol       Date:  2018-01-05       Impact factor: 42.937

9.  Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.

Authors:  Jamie Matteson; Stanley Sciortino; Lisa Feuchtbaum; Tracey Bishop; Richard S Olney; Hao Tang
Journal:  Int J Neonatal Screen       Date:  2021-04-17

10.  The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy.

Authors:  Andrea Coppa; Sanjib Guha; Stéphane Fourcade; Janani Parameswaran; Montserrat Ruiz; Ann B Moser; Agatha Schlüter; Michael P Murphy; Jose Miguel Lizcano; Antonio Miranda-Vizuete; Esther Dalfó; Aurora Pujol
Journal:  Free Radic Biol Med       Date:  2020-02-01       Impact factor: 7.376
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