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The Grey Zone Project: Risk‐Based Classification of ABCD1 Variants in X‐Linked Adrenoleukodystrophy

9 Feb 2026

Abstract excerpt

Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline-elevated C26:0-lysophosphatidylcholine (LPC(26:0)) levels. Traditional American College of Medical Genetics and Genomics...

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PMID: 41663336
DOI: 10.1002/jimd.70157

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