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Newborn Screening for Lysosomal Storage Disorders.

Roy W A Peake¹, Olaf A Bodamer²

¹Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts, United States.

Journal of Pediatric Genetics

|February 10, 2017

Summary

Newborn screening identifies infants with treatable conditions, reducing illness and death. This review examines the potential for newborn screening of lysosomal storage disorders, despite challenges like late-onset symptoms.

Keywords:

dried blood spot filter card mass spectrometry

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Area of Science:

Public Health
Genetics
Pediatrics

Background:

Newborn screening is a vital public health strategy for early detection of treatable infant diseases.
Screening expands with new technologies and therapies, including for rare genetic disorders.
Lysosomal storage disorders are emerging candidates for newborn screening programs.

Purpose of the Study:

To critically review the current status of newborn screening for lysosomal storage disorders.
To evaluate the feasibility and challenges of implementing newborn screening for these conditions.
To assess the impact of screening on morbidity and mortality.

Main Methods:

Literature review of current newborn screening practices.
Analysis of technological advancements in screening methodologies.
Evaluation of therapeutic options for lysosomal storage disorders.
Assessment of challenges in identifying late-onset phenotypes.

Main Results:

Lysosomal storage disorders are increasingly considered for newborn screening.
Technological advancements facilitate broader screening capabilities.
Significant challenges remain, particularly in identifying late-onset forms of these disorders.
Early identification holds potential to reduce disease burden.

Conclusions:

Newborn screening for lysosomal storage disorders is a developing area with significant potential.
Addressing challenges like late-onset phenotypes is crucial for successful implementation.
Further research and technological refinement are needed to optimize screening protocols.