Synthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA.

ABSTRACT: Mucopolysaccharidosis IIIA (MPS IIIA) is caused by deficiency of the lysosomal enzyme heparan N-sulfatase. Newborn screening of MPS IIIA is carried out by first-tier measurement of enzyme activity followed by measurement of accumulated heparan sulfate-derived biomarker, both by tandem mass spectrometry. Here we described the synthesis of the endogenous non-reducing end disaccharide (in unlabeled and heavy isotopic form) that can be used for quantification of this biomarker in patient samples.

SUBMITTER: Gholap SP 

PROVIDER: S-EPMC12550732 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature