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Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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

Barbara K Burton¹, Joel Charrow¹, George E Hoganson²

¹Department of Pediatrics, Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital, Feinberg School of Medicine of Northwestern University, Chicago, IL.

The Journal of Pediatrics

|July 22, 2017

Summary

Newborn screening in Illinois identified higher incidences of Fabry and Pompe diseases than expected. Long-term follow-up is crucial to confirm risks and benefits of lysosomal storage disorder (LSD) screening.

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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.