Related Experiment Video
Updated: Sep 18, 2025
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening
Lacey Vermette1, Jon Washburn2, Tracy Klug1
1Missouri State Public Health Laboratory, P.O. Box 570, Jefferson City, MO 65102, USA.
Insights
Newborn screening now includes lysosomal storage disorders (LSDs). This study analyzed demographic factors and enzyme activity in over 475,000 newborns, providing crucial data for establishing reliable screening cutoffs.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Lysosomal storage disorders (LSDs) are increasingly included in newborn screening panels.
- Late diagnosis of LSDs leads to severe, irreversible health consequences.
- Limited data exists on demographic correlations with enzyme activity in newborn screening.
Purpose of the Study:
- To investigate trends between demographic variables and lysosomal enzyme activity.
- To provide a resource for newborn screening laboratories implementing LSD screening.
- To aid in the establishment of accurate screening cutoffs for LSDs.
Main Methods:
- Prospective screening of over 475,000 newborns.
- Analysis of enzyme activities for four LSDs: MPS I, Pompe, Gaucher, and Fabry diseases.
- Correlation of demographic data (age, birthweight, gestational age, gender) with enzyme levels (IDUA, GAA, GBA, GLA).
Main Results:
- Identified trends between demographic variables and lysosomal enzyme activities.
- Established baseline enzyme activity data across a large newborn cohort.
- Provided insights into potential variations in enzyme levels based on demographic factors.
Conclusions:
- Demographic variables may influence lysosomal enzyme activity in newborns.
- Understanding these correlations is vital for optimizing newborn screening protocols for LSDs.
- This data supports the refinement of screening cutoffs and interpretation of results.
Abstract:
Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset of symptoms; late detection can lead to profound and irreversible organ damage and mortality. While screening of these disorders has accelerated over the past five years, there is little published information regarding the potential correlation of demographic variables (age at sample collection, birthweight, gestational age, gender, etc.) with lysosomal enzyme activity. The Missouri State Public Health Laboratory prospectively screened more than 475,000 newborns for MPS I, Pompe disease, Gaucher disease, and Fabry disease between 15 January 2013 and 15 May 2018. This report investigates trends between several demographic variables and activities of four lysosomal enzymes: α-L-iduronidase (IDUA), acid α-glucosidase (GAA), acid β-glucocerebrosidase (GBA), and acid α-galactosidase (GLA). This information provides a valuable resource to newborn screening laboratories for the implementation of screening for lysosomal storage disorders and the establishment of screening cutoffs.
