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 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.
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The implementation of newborn screening for ALD in the United States and the Netherlands has provided the opportunity to identify patients at birth.
“The implementation of newborn screening for ALD in the United States and the Netherlands has provided the opportunity to identify patients at birth [7,51,52,53,54,55,56].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [51]
Since the beginning of 2014, X-ALD is included in the New York State newborn screening program.
“Indeed, since the beginning of 2014, X-ALD is included in the New York State newborn screening program,74”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [74]
Determination of C26:0-LPC will also identify the majority of female X-ALD carriers as well as patients affected by different peroxisomal biogenesis disorders or single enzyme deficiencies of the peroxisomal beta-oxidation pathway.
“In addition to the detection of male X-ALD patients, determination of C26:0-LPC will also identify the majority of female X-ALD carriers as well as patients affected by different peroxisomal biogenesis disorders or single enzyme deficiencies of the peroxisomal beta-oxidation pathway.72,74”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [74]
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Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
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- Authors
- Vogel, B. H., Bradley, S. E., Adams, D. J., D'Aco, K., Erbe, R. W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C. A., Shur, N., Wasserstein, M., Raymond, G. V., & Caggana, M.
- Affiliations
- New York State Department of Health (US)
- Women & Children's Hospital of Buffalo (US)
- University of Rochester Medicine (US)
- Morgan Stanley Children's Hospital (US)
- New York Medical College (US)
- Montefiore Medical Center (US)
- Stony Brook Children's Hospital (US)
- SUNY Upstate Medical University (US)
- Albany Medical College (US)
- Mount Sinai Hospital (US)
- University of Minnesota Medical Center (US)
- Corresponding author
- Vogel, B.H.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2015-04
- Volume
- 114
- Issue
- 4
- Pages
- 599-603
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W1974733334
- Cited by
- 123
- References
- 5
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 6 · 2023: 13 · 2022: 16 · 2021: 13 · 2020: 13 · 2019: 10 · 2018: 13 · 2017: 9 · 2016: 11 · 2015: 3
- FWCI
- 9.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- X-linked adrenoleukodystrophy, newborn screening, diagnostic protocol, carrier detection, Zellweger spectrum disorder, D-bifunctional protein deficiency, long-term follow-up, surveillance protocol, treatment guidelines, genetic counseling, New York State
- MeSH terms
- Adrenal Insufficiency, Adrenoleukodystrophy, Algorithms, Genetic Counseling, Humans, Infant, Newborn, Male, New York, Zellweger Syndrome, Neonatal Screening, Peroxisomal Disorders, Acyl-CoA Oxidase, Peroxisomal Multifunctional Protein-2
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