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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
Barbara K Burton1,2, Rachel Hickey1, Lauren Hitchins1,2
1Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Insights
Newborn screening for X-linked adrenoleukodystrophy (X-ALD) in Illinois successfully identified affected infants. Early detection through C26:0-LPC measurement in dried blood spots enables life-saving interventions before symptom onset.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- X-linked adrenoleukodystrophy (X-ALD) is a rare genetic neurodegenerative disorder affecting males and females.
- Childhood cerebral X-ALD has a high mortality rate if not treated early, necessitating timely diagnosis.
- X-ALD is now part of the Recommended Uniform Screening Panel due to the benefits of early detection.
Purpose of the Study:
- To evaluate the implementation and outcomes of newborn screening for X-ALD in Illinois.
- To assess the effectiveness of measuring C26:0 lysophosphatidylcholine (C26:0-LPC) for X-ALD detection in newborns.
- To determine the incidence of X-ALD in the screened Illinois population.
Main Methods:
- Liquid chromatography with tandem mass spectrometry was used to measure C26:0-LPC in dried blood spots (DBS).
- Screening criteria included positive results (≥ 0.28 µmol/L) and borderline results (≥0.18 and <0.28 µmol/L).
- Approximately 276,000 newborns in Illinois were screened.
Main Results:
- 18 screen-positive results were detected, with 12 confirmed cases of X-ALD.
- 5 X-ALD cases were identified from 73 borderline screen results.
- Screening results were comparable to those reported in other states, indicating successful implementation.
Conclusions:
- Newborn screening for X-ALD in Illinois is feasible and effective.
- Early identification of X-ALD through newborn screening significantly improves patient outcomes.
- The C26:0-LPC biomarker is a reliable indicator for X-ALD in newborn screening programs.
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.