Abstract
X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood cerebral adrenoleukodystrophy, which progresses rapidly to severe disability and death. In these cases, early surveillance and treatment can be lifesaving, but only if initiated before the onset of neurologic symptoms. Therefore, X-ALD was added to the Recommended Uniform Screening Panel. We report outcomes of the initial screening of approximately 276,000 newborns in Illinois. The lipid C26:0 lysophosphatidylcholine (C26:0-LPC) was measured in dried blood spots (DBS) using liquid chromatography with tandem mass spectrometry. Results ≥ 0.28 µmol/L were considered screen positive. Of 18 screen positive results detected, 12 cases were confirmed. Results were reported as borderline if initial and repeat analyses were ≥0.18 and <0.28 µmol/L. Of the 73 borderline screen results, 57 were normal after analysis of a second sample. Five X-ALD cases were identified from borderline screens. Newborn screening of X-ALD was successfully implemented in Illinois, and results were comparable to reports from other states. Early identification of infants with this potentially life-threatening disorder will significantly improve outcomes for these children.
Highlights
X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder resulting from mutations in the ABCD1 gene
Approximately one-third of affected males develop rapidly progressive brain involvement, referred to as childhood cerebral adrenoleukodystrophy (CCALD) at 3–10 years of age with a smaller fraction developing a cerebral disease in adolescence or adult life
We found that the patients with other peroxisomal disorders had C26:0 lysophosphatidylcholine (C26):0-LPC levels on newborn screening that were significantly higher than those observed in male or female infants with X-ALD
Summary
X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder resulting from mutations in the ABCD1 gene. It has an estimated incidence in the United. The disorder is associated with impaired peroxisomal oxidation of very-long-chain fatty acids (VLCFA) and VLCFA elevations as measured in plasma. Both males and females are affected, and a range of phenotypes are observed in affected individuals, with no genotype–phenotype correlation [2]. Approximately one-third of affected males develop rapidly progressive brain involvement, referred to as childhood cerebral adrenoleukodystrophy (CCALD) at 3–10 years of age with a smaller fraction developing a cerebral disease in adolescence or adult life. Addison’s disease is common in affected males as well and can be the earliest or only sign of the disorder [3]
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