Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

• Main Authors: Dawn S. Peck (Author), Jean M. Lacey (Author), Amy L. White (Author), Gisele Pino (Author), April L. Studinski (Author), Rachel Fisher (Author), Ayesha Ahmad (Author), Linda Spencer (Author), Sarah Viall (Author), Natalie Shallow (Author), Amy Siemon (Author), J. Austin Hamm (Author), Brianna K. Murray (Author), Kelly L. Jones (Author), Dimitar Gavrilov (Author), Devin Oglesbee (Author), Kimiyo Raymond (Author), Dietrich Matern (Author), Piero Rinaldo (Author), Silvia Tortorelli (Author)
• Format: Book
• Published: MDPI AG, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substr...