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Cited by 50Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchGenomics and Rare Diseases

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

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Matteson, Jamie, Sciortino, Stanley, Feuchtbaum, Lisa, Bishop, Tracey, Olney, Richard S., Tang, Hao·2021·International Journal of Neonatal Screening
DOI 10.3390/ijns7020022PMC PMC8167547
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Abstract

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

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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 [56]

    The Results (§3.1; page unavailable) show that California newborn screening identified 95 males diagnosed with ALD, supporting the U.S. portion of the claim. The paper does not report implementation or patient identification in the Netherlands; a search for “Netherlands” found no relevant passage. (LLM, conf=0.86)

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Cited by

Sorted by citations

Authors
Matteson, J., Sciortino, S., Feuchtbaum, L., Bishop, T., Olney, R. S., & Tang, H.
Affiliations
California Department of Public Health (US)
Corresponding author
Matteson, Jamie
ORCID
Venue
International Journal of Neonatal Screening
Publisher
MDPI AG
Published
2021-04-17
Volume
7
Issue
2
Pages
22
ISSN
2409-515X (ISSN-L)
DOI
10.3390/ijns7020022
PMC
PMC8167547
OpenAlex
W3154609564
Cited by
50
References
8
Citations by year
2026: 5 · 2025: 7 · 2024: 8 · 2023: 13 · 2022: 14 · 2021: 3
FWCI
6.67
Type
journal article
Language
en
Open access
Licence
Locations
  • International Journal of Neonatal Screening (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
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 › Genomics and Rare Diseases
Keywords
X-linked adrenoleukodystrophy, newborn screening, birth prevalence, adrenal involvement, program implementation challenges, long-term follow-up

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