Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study
Abstract
A patient with multiple sulfatase deficiency (MSD) was identified through a lysosomal storage disorder enzyme analysis panel, based on a characteristic pattern of reduced activities across multiple sulfatases. Newborn screening laboratories implement various quality control protocols to assess the integrity of received samples. The quality control policy for identifying heat-denatured samples evaluates several enzyme activity levels to determine if a sample has been compromised by excessive heat. A new quality control policy has been established to differentiate heat-denatured samples from those affected by Multiple Sulfatase Deficiency.
Fields of Study & Subjects
Lysosomal Storage Disorders Research
Infant Development and Preterm Care
Biomedical Research and Pathophysiology
Publication details
- Journal / source
- Molecular Genetics and Metabolism Reports
- Volume
- 46
- Pages
- 101285–101285
- Publication date
- 6 January 2026
- Language
- EN