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

B. H. Vogel, S. E. Bradley, D. J. Adams, K. D'Aco, R. W. Erbe, C. Fong, A. Iglesias, D. Kronn, P. Levy, M. Morrissey, J. Orsini, P. Parton, J. Pellegrino, C. A. Saavedra-Matiz, N. Shur, M. Wasserstein, G. V. Raymond, M. Caggana

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


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. 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. 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. 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.

Original languageEnglish (US)
Pages (from-to)599-603
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number4
StatePublished - Apr 1 2015

Bibliographical note

Funding Information:
Dr. Raymond has previously received funding from the NIH and foundations to study newborn screening for ALD. The rest of the authors declare no conflict of interest.

Publisher Copyright:
© 2015 Elsevier Inc.


  • Adrenal insufficiency
  • Adrenoleukodystrophy
  • Genetic counseling
  • Newborn screening
  • Peroxisomal disorders


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