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A Life in Newborn Screening
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Int. J. Neonatal Screen. 2016, 2(4), 15; doi:10.3390/ijns2040015

Newborn Screening for X-Linked Adrenoleukodystrophy

Kennedy Krieger Institute, Baltimore, MD 21205, USA
Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA (retired)
Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA
Department of Neurology, University of Minnesota Medical Center, Minneapolis, MN 55455, USA
Author to whom correspondence should be addressed.
Academic Editor: Harvey L. Levy
Received: 5 October 2016 / Revised: 3 November 2016 / Accepted: 30 November 2016 / Published: 6 December 2016
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
View Full-Text   |   Download PDF [181 KB, uploaded 6 December 2016]


Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history of the development of the newborn screening test, the approval by the Secretary of Health and Human Services for the addition of X-ALD newborn screening to the recommended uniform panel of disorders screened as newborns (RUSP) and the successful implementation of X-ALD newborn screening in the state of New York beginning on 30 December 2013. Follow-up guidelines that have been established in New York are outlined. Based on the success of newborn screening in New York, and early results in Connecticut, where X-ALD newborn screening started in December 2015, and in California, where X-ALD newborn screening began in September 2016, we are confident and hopeful that X-ALD newborn screening will expand to include all US states and to countries that have established neonatal screening programs. The Minster of Health in the Netherlands has approved the addition of X-ALD to the newborn screening program with a start date expected in 2017. The states, such as Massachusetts, Illinois, Minnesota, New Jersey, Florida and Washington, that have legislative approval will commence screening as soon as budgetary resources, testing and follow-up procedures are in place. View Full-Text
Keywords: newborn screening; X-linked adrenoleukodystrophy; adrenal insufficiency; hematopoietic cell transplantation; C26:0 lysophosphatidyl choline; dried blood spot; tandem mass spectrometry (LC-MS/MS); peroxisomal disorders newborn screening; X-linked adrenoleukodystrophy; adrenal insufficiency; hematopoietic cell transplantation; C26:0 lysophosphatidyl choline; dried blood spot; tandem mass spectrometry (LC-MS/MS); peroxisomal disorders
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Moser, A.B.; Jones, R.O.; Hubbard, W.C.; Tortorelli, S.; Orsini, J.J.; Caggana, M.; Vogel, B.H.; Raymond, G.V. Newborn Screening for X-Linked Adrenoleukodystrophy. Int. J. Neonatal Screen. 2016, 2, 15.

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