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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 6 Lysosomal Storage Disorders in China.

Siyu Chang¹, Xia Zhan¹, Yuchao Liu¹

¹Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

JAMA Network Open

|May 13, 2024

Summary

Newborn screening in Shanghai found a high birth prevalence of lysosomal storage disorders (LSDs). Tandem mass spectrometry (MS/MS) identified 27 newborns with LSDs, predominantly later-onset forms.

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Area of Science:

Genetics and Genomics
Public Health
Biochemistry

Background:

Newborn screening (NBS) for lysosomal storage disorders (LSDs) is crucial for early detection and management.
Limited data exists on the birth prevalence and subclinical forms of LSDs in the Chinese population.
Evaluating NBS for LSDs in Shanghai addresses a critical public health knowledge gap.

Purpose of the Study:

To determine the birth prevalence of six specific LSDs in the Shanghai newborn population.
To characterize subclinical forms of LSDs using clinical, biochemical, and genetic analyses.
To assess the utility of tandem mass spectrometry (MS/MS) in NBS for LSDs.

Main Methods:

A cohort of 50,108 newborns in Shanghai were screened for Gaucher, ASMD, Krabbe, MPS I, Fabry, and Pompe diseases using MS/MS.
Screen-positive newborns underwent confirmatory molecular, biochemical, and clinical evaluations.
Data analysis spanned January 2021 to October 2022.

Main Results:

The combined birth prevalence of the six LSDs was 1 in 1856 live births.
Krabbe disease (1/5568), Fabry disease (1/6264), and ASMD (1/10,022) were the most prevalent.
Of the 27 diagnosed newborns, 11.1% had early-onset forms, while 88.9% presented with later-onset forms.

Conclusions:

The birth prevalence of these six LSDs in Shanghai is notably high.
MS/MS-based NBS effectively identifies and characterizes newborns with LSDs.
Findings support improved parental counseling and management strategies for LSDs.