%0 Journal Article
%T Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
%A Vogel BH
%A Bradley SE
%A Adams DJ
%A D'Aco K
%A Erbe RW
%A Fong C
%A Iglesias A
%A Kronn D
%A Levy P
%A Morrissey M
%A Orsini J
%A Parton P
%A Pellegrino J
%A Saavedra-Matiz CA
%A Shur N
%A Wasserstein M
%A Raymond GV
%A Caggana M
%J Mol Genet Metab
%V 114
%N 4
%D Apr 2015
%M 25724074
%F 4.204
%R 10.1016/j.ymgme.2015.02.002
%X <B>OBJECTIVE: </B>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><B>METHODS: </B>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><B>RESULTS: </B>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><B>CONCLUSIONS: </B>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.