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Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update
Arpana Rayannavar1,2, Charles J Billington2,3, Rebecca Tryon2,3,4
1Division of Pediatric Endocrinology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
American Journal of Medical Genetics. Part A
|January 13, 2025
Summary
Newborn screening for X-linked adrenoleukodystrophy (ALD) enables early detection of adrenal insufficiency (AI) and cerebral ALD (cALD) in children. High newborn screening lysophosphatidylcholine levels correlate with variant pathogenicity.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder affecting the adrenal glands and central nervous system.
- Newborn screening (NBS) for ALD allows for early identification of affected individuals.
Purpose of the Study:
- To report outcomes of adrenal insufficiency (AI) and cerebral ALD (cALD) in children diagnosed via NBS in Minnesota.
- To evaluate the effectiveness of ALD NBS in early detection and management.
Main Methods:
- Retrospective chart review of children diagnosed with ALD through Minnesota NBS (02/2017-02/2022).
- Review of newborn screening data, very long chain fatty acid levels, ABCD1 molecular testing, hormone levels (ACTH, cortisol), and brain MRI results.
Main Results:
- Thirty-two boys and 11 girls were diagnosed with ALD.
- Six boys developed AI, and two developed cALD requiring stem cell transplantation.
- All detected pathogenic variants showed initial C26:0 lysophosphatidylcholine (C26:0 lysoPC) levels >0.3 μmol/L.
Conclusions:
- ALD addition to NBS in Minnesota facilitates early detection of asymptomatic AI and cALD.
- High newborn screening LysoPC levels correlate positively with variant pathogenicity, aiding in risk assessment.
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