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Newborn screening for lysosomal storage disorders

Dietrich Matern1, Dimitar Gavrilov2, Devin Oglesbee2

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN; Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN.

Seminars in Perinatology
|April 21, 2015
PubMed

Insights

Newborn screening in the U.S. now includes tests for over 29 disorders. This review covers the current status of newborn screening for lysosomal storage disorders, including Pompe, Fabry, and Gaucher diseases.

Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Newborn screening is crucial for early detection of genetic disorders.
  • Advancements in screening technology enable the identification of more conditions.
  • Lysosomal storage disorders (LSDs) are increasingly considered for inclusion in newborn screening.

Purpose of the Study:

  • To review the current state of newborn screening for specific lysosomal storage disorders.
  • To discuss the feasibility and benefits of including LSDs in newborn screening programs.

Main Methods:

  • Literature review of current newborn screening practices.
  • Analysis of pilot studies and existing international screening programs for LSDs.

Main Results:

  • Several LSDs, including Pompe disease, Fabry disease, and Gaucher disease, have been evaluated for newborn screening.
  • Some LSDs are already part of select national or international newborn screening panels.
  • Evidence supports the early detection and potential benefit of screening for these conditions.

Conclusions:

  • Newborn screening programs are expanding to include more lysosomal storage disorders.
  • Early detection of LSDs through newborn screening can lead to timely intervention and improved outcomes.
  • Continued evaluation and implementation of LSD screening are warranted.

Keywords:
Dried blood spotsImmunoquantificationLysosomal storage disordersNewborn screeningTandem mass spectrometry

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