Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience

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.