Development of a Newborn Screening Tool for Mucopolysaccharidosis Type I Based on Bivariate Normal Limits: Using Glycosaminoglycan and Alpha-L-iduronidase Determinations on Dried Blood Spots to Predict Symptoms

Overview

Journal JIMD Rep

Publisher Wiley

Date 2020 Mar 11

PMID 32154058

Citations 7

Authors

Thomas J Langan

Kabir Jalal

Amy L Barczykowski

Randy L Carter

Molly Stapleton

Kenji Orii

Toshiyuki Fukao

Hironori Kobayashi

Seiji Yamaguchi

Shunji Tomatsu

Affiliations

Soon will be listed here.

Abstract

Purpose: Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based on known biomarkers, alpha-L-iduronidase enzyme activity (IDUA) and level of the glycosaminoglycan (GAG) heparan sulfate (HS).

Methods: We developed the NBS tool using measures from dried blood spots (DBS) of 5000 normal newborns from Gifu Prefecture, Japan. The tool's predictive accuracy was tested on the newborn DBS from these infants and from seven patients who were known to have early-onset MPSI (Hurler's syndrome). Bivariate analyses of the standardized natural logarithms of IDUA and HS levels were employed to develop the tool.

Results: Every case of early-onset MPSI was predicted correctly by the tool. No normal newborn was incorrectly identified as having early-onset MPSI, whereas 12 normal newborns were so incorrectly identified by the Gifu NBS protocol. The PPV was estimated to be 99.9%.

Conclusions: Bivariate analysis of IDUA with HS in newborn DBS can accurately predict early MPSI symptoms, control false positive rates, and enhance presymptomatic treatment. This bivariate analysis-based approach, which was developed for Krabbe disease, can be extended to additional screened disorders.

Citing Articles

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.

Jalal K, Carter R, Barczykowski A, Tomatsu S, Langan T Int J Neonatal Screen. 2022; 8(4).

PMID: 36412587 PMC: 9680456. DOI: 10.3390/ijns8040061.

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.

Arunkumar N, Vu D, Khan S, Kobayashi H, Can T, Oguni T Diagnostics (Basel). 2021; 11(8).

PMID: 34441282 PMC: 8394749. DOI: 10.3390/diagnostics11081347.

The future of newborn screening for lysosomal disorders.

Wasserstein M, Orsini J, Goldenberg A, Caggana M, Levy P, Breilyn M Neurosci Lett. 2021; 760:136080.

PMID: 34166724 PMC: 10387443. DOI: 10.1016/j.neulet.2021.136080.

Epidemiology of Mucopolysaccharidoses Update.

Celik B, Tomatsu S, Tomatsu S, Khan S Diagnostics (Basel). 2021; 11(2).

PMID: 33578874 PMC: 7916572. DOI: 10.3390/diagnostics11020273.

A Biochemical Platform to Define the Relative Specific Activity of Variants Identified by Newborn Screening.

Yu S, Pollard L, Wood T, Flanagan-Steet H, Steet R Int J Neonatal Screen. 2020; 6(4).

PMID: 33198351 PMC: 7711455. DOI: 10.3390/ijns6040088.

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