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

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

Author information

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.

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

PMID:
25724074
DOI:
10.1016/j.ymgme.2015.02.002
[Indexed for MEDLINE]

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