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

Abstract Purpose To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counselingconsiderations and long-term follow-up data elementsdeveloped in preparation for X-linked adrenoleukodystrophy(X-ALD) newborn screeningin New York State. Methods A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn ScreeningProgram, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference callstook place to develop and refine a complete newborn screeningsystem 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 deficiencyor 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 screeninglaboratory 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.