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Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2015 Apr; Vol. 114 (4), pp. 599-603. Date of Electronic Publication: 2015 Feb 12. - Publication Year :
- 2015
-
Abstract
- Purpose: 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.<br />Methods: 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.<br />Results: 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.<br />Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines.<br /> (Copyright © 2015 Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 114
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 25724074
- Full Text :
- https://doi.org/10.1016/j.ymgme.2015.02.002