Newborn screening of lysosomal storage disorders

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Newborn screening programs have evolved significantly over 40 years, expanding from phenylketonuria to over 30 inborn errors of metabolism.
• Lysosomal storage disorders (LSDs) are a group of inherited rare diseases, some of which are treatable if diagnosed early.
• Technological advancements are enabling the consideration of screening for LSDs within existing newborn screening frameworks.

Purpose of the Study:

• To review the history and technological evolution of newborn screening.
• To discuss lysosomal storage disorders (LSDs), their treatments, and candidacy for newborn screening.
• To explore evolving methods for expanding newborn screening to include LSDs.

Main Methods:

• Review of historical newborn screening practices.
• Analysis of technological advancements in metabolic disorder screening.
• Evaluation of treatment availability and screening methods for specific LSDs.

Main Results:

• Six LSDs (Gaucher, Pompe, Fabry, Niemann-Pick, MPS I, Krabbe) are identified as candidates for US newborn screening.
• Early detection through screening allows for presymptomatic or early symptomatic treatment.
• Technological progress supports the expansion of newborn screening to include LSDs.

Conclusions:

• Emerging technologies facilitate newborn screening for LSDs.
• Screening identifies affected newborns before symptom onset.
• Early intervention can prevent or mitigate the severe morbidity associated with LSDs.