Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Lysosomal storage disorders (LSDs) are a group of rare genetic diseases.
• Newborn screening aims to detect these disorders early for timely intervention.
• The Illinois Department of Public Health implemented screening for five LSDs.

Purpose of the Study:

• To evaluate the outcomes of newborn screening for five LSDs in Illinois.
• To determine the incidence of these LSDs in the screened population.

Main Methods:

• Tandem mass spectrometry was used to analyze enzyme activity in dried blood spots.
• Over 219,000 newborn samples were tested.
• Follow-up testing, including genotyping, was conducted for positive screens.

Main Results:

• Incidences for Fabry disease (1 in 8,454) and Pompe disease (1 in 21,979) were higher than previously reported.
• Incidences for Gaucher disease, MPS I, and Niemann-Pick disease were comparable to existing estimates.
• Twenty-two infants had positive screens but remained unclassified after follow-up.

Conclusions:

• Newborn screening identified higher than expected rates of Fabry and Pompe diseases, often late-onset.
• The study highlights the need for long-term follow-up to validate screening effectiveness.
• Further research is essential to understand the true risks and benefits of LSD newborn screening.