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

Mol Genet Metab. 2015 Apr;114(4):599-603. doi: 10.1016/j.ymgme.2015.02.002. Epub 2015 Feb 12.


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.

Keywords: Adrenal insufficiency; Adrenoleukodystrophy; Genetic counseling; Newborn screening; Peroxisomal disorders.

Publication types

  • Practice Guideline

MeSH terms

  • Acyl-CoA Oxidase / deficiency
  • Adrenal Insufficiency / diagnosis
  • Adrenoleukodystrophy / diagnosis*
  • Algorithms
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening*
  • New York
  • Peroxisomal Disorders / diagnosis
  • Peroxisomal Multifunctional Protein-2 / deficiency
  • Zellweger Syndrome / diagnosis


  • Acyl-CoA Oxidase
  • Peroxisomal Multifunctional Protein-2
  • HSD17B4 protein, human