Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines

Molecular Genetics and Metabolism
Beth H VogelMichele Caggana

Abstract

To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State. A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up. A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed. Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop fo...Continue Reading

References

Sep 28, 1971·Biochimica Et Biophysica Acta·V Bocchini
Feb 28, 2001·Annals of Neurology·B M van GeelG V Raymond
Nov 25, 2005·Pediatric Transplantation·Asif MahmoodAnn Moser
Jan 13, 2006·Archives of Neurology·Christiane S CoxHugo W Moser
Oct 24, 2006·Biochimica Et Biophysica Acta·Steven J SteinbergHugo W Moser
Jan 24, 2007·Pediatrics·Dorothy I ShulmanUNKNOWN Lawson Wilkins Drug and Therapeutics Committee
Mar 18, 2009·Lancet·Barron H Lerner
Dec 22, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michele A Lloyd-Puryear, Amy Brower
Apr 10, 2012·Biochimica Et Biophysica Acta·Stephan KempPatrick Aubourg
Apr 17, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Christopher A Haynes, Víctor R De Jesús
May 15, 2013·Neurology·Paul R Lee, Gerald V Raymond
Nov 26, 2013·Molecular Genetics and Metabolism·Christiane ThedaGerald V Raymond
Aug 15, 2014·Current Neurology and Neuroscience Reports·Marc EngelenBwee-Tien Poll-The

❮ Previous
Next ❯

Citations

Dec 3, 2015·Orphanet Journal of Rare Diseases·Femke C C KlouwerBwee Tien Poll-The
Jun 23, 2016·Molecular Genetics and Metabolism Reports·Ryuichi MashimaTorayuki Okuyama
Jun 1, 2016·Endocrinology and Metabolism Clinics of North America·Elizabeth Burtman, Molly O Regelmann
Jun 18, 2016·Nature Reviews. Endocrinology·Stephan KempMarc Engelen
Jul 20, 2016·Biochimica Et Biophysica Acta·Catherine E van EngenMathieu Barbier
Dec 14, 2017·Biomarkers in Medicine·Ryuichi Mashima, Masamitsu Maekawa
Jun 24, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alex R KemperSusan Tanksley
Aug 17, 2018·Journal of Child Neurology·Eliza Gordon-Lipkin, Ali Fatemi
Sep 27, 2018·The Journal of Clinical Endocrinology and Metabolism·Irene C HuffnagelFlorian Eichler
Oct 6, 2018·The Journal of Clinical Endocrinology and Metabolism·Molly O RegelmannUNKNOWN Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee
May 11, 2019·American Journal of Medical Genetics. Part a·Katie WiensPaul J Orchard
Nov 27, 2019·Current Treatment Options in Neurology·Eric J MallackFlorian S Eichler
Dec 4, 2019·Current Opinion in Endocrinology, Diabetes, and Obesity·Liane Eng, Molly O Regelmann
Feb 1, 2020·JAMA Network Open·Stacey LeeJennifer L Taylor
Mar 25, 2019·Neurology·Afonso P LiberatoFlorian S Eichler
Jun 3, 2020·Neurology·Eric J MallackFlorian S Eichler
Dec 12, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Irene De BiaseUNKNOWN ACMG Laboratory Quality AssuranceCommittee
Jul 6, 2017·Journal of Inherited Metabolic Disease·Femke C C KlouwerFrédéric M Vaz
May 5, 2020·Endocrine Reviews·Jia ZhuJoseph A Majzoub
Dec 1, 2016·International Journal of Neonatal Screening·Ann B MoserGerald V Raymond
Jul 7, 2020·Frontiers in Cell and Developmental Biology·Rinse W BarendsenStephan Kemp
May 12, 2017·Wiener medizinische Wochenschrift·Bela R TurkAli Fatemi
Jun 28, 2018·JAMA Neurology·Ann B Moser, Ali Fatemi
Aug 23, 2018·The Hastings Center Report·Cynthia M Powell
Oct 13, 2018·Orphanet Journal of Rare Diseases·Alice BesseyAnthea Sutton
Jun 27, 2019·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Fernanda Luiza Schumacher FurlanMara Lucia Schmitz Ferreira Santos
Nov 29, 2020·Molecular Genetics and Metabolism·Clara D M van KarnebeekStephan Kemp
Nov 27, 2020·International Journal of Neonatal Screening·Patricia L HallWilliam Wilcox
Jul 22, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Tanguy DemaretEtienne M Sokal
Apr 6, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Jia Zhu, David T Breault
May 1, 2021·International Journal of Neonatal Screening·Jamie MattesonHao Tang
Apr 25, 2021·Seminars in Pediatric Neurology·Allison M Bradbury, Margie A Ream
Jun 3, 2021·Metabolites·Henry Gerd KlempRalph Krätzner
Sep 11, 2021·AJNR. American Journal of Neuroradiology·E J MallackF S Eichler
Aug 25, 2021·Pediatrics·Joshua L BonkowskyUNKNOWN AAP Section on Neurology, Council on Genetics

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.

Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Addison Disease

Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones. Discover the latest research on Addison's disease here.

Related Papers

RöFo : Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
M FenchelM Horger
The Indian Journal of Medical Research
Aliza Mittal, Kailash Chandra Aggarwal
© 2022 Meta ULC. All rights reserved