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

doi:10.1016/j.ymgme.2015.02.002

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.

Authors

B H Vogel¹, S E Bradley², D J Adams³, K D'Aco⁴, R W Erbe⁵, C Fong⁴, A Iglesias⁶, D Kronn⁷, P Levy⁸, M Morrissey², J Orsini², P Parton⁹, J Pellegrino¹⁰, C A Saavedra-Matiz², N Shur¹¹, M Wasserstein¹², G V Raymond¹³, M Caggana²

Affiliations

¹ Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA. Electronic address: beth.vogel@health.ny.gov.
² Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
³ Jacobs Equity Management Personalized Genomic Medicine Program, Goryeb Pediatrics Genetics and Metabolism, Morristown, NJ, USA.
⁴ Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA.
⁵ Division of Genetics, Women and Children's Hospital of Buffalo, Buffalo, NY, USA.
⁶ New York Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.
⁷ New York Medical College, Valhalla, NY, USA.
⁸ Center for Inherited Medical Disorders, Children's Hospital at Montefiore, Bronx, NY, USA.
⁹ Division of Genetics, Stony Brook Long Island Children's Hospital, Stony Brook, NY, USA.
¹⁰ Department of Pediatrics, State University of New York Upstate Medical University, Syracuse, NY, USA.
¹¹ Albany Medical Center, Albany, NY, USA.
¹² Division of Medical Genetics, Division of Genomic Sciences, Mount Sinai Medical Center, New York, NY, USA.
¹³ Department of Neurology, University of Minnesota Medical Center, Minneapolis, MN, USA.

PMID: 25724074
DOI: 10.1016/j.ymgme.2015.02.002

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.

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

Substances

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