Trusted Resources: Education
Scientific literature and patient education texts
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and An Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis
source: Diagnostics (Basel, Switzerland)
year: 2021
authors: Chuang CK,Lee CL,Tu RY,Lo YT,Sisca F,Chang YH,Liu MY,Liu HY,Chen HJ,Kao SM,Wang LY,Ho HJ,Lin HY,Lin SP
summary/abstract:Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified. Newborn screening (NBS) programs for MPSs have been implemented in Taiwan since 2015, and more than 48.5% of confirmed cases of MPS have since been referred from these NBS programs. The purpose of this study was to report the current status of NBS for MPSs in Taiwan and update the gold standard criteria required to make a confirmative diagnosis of MPS, which requires the presence of the following three laboratory findings: (1) elevation of individual urinary glycosaminoglycan (GAG)-derived disaccharides detected by MS/MS-based assay; (2) deficient activity of a particular leukocyte enzyme by fluorometric assay; and (3) verification of heterogeneous or homogeneous variants by Sanger sequencing or next generation sequencing. Up to 30 April 2021, 599,962 newborn babies have been screened through the NBS programs for MPS type I, II, VI, and IVA, and a total of 255 infants have been referred to MacKay Memorial Hospital for a confirmatory diagnosis. Of these infants, four cases were confirmed to have MPS I, nine cases MPS II, and three cases MPS IVA, with prevalence rates of 0.67, 2.92, and 4.13 per 100,000 live births, respectively. Intensive long-term regular physical and laboratory examinations for asymptomatic infants with confirmed MPS or with highly suspected MPS can enhance the ability to administer ERT in a timely fashion.
organization: Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan.DOI: 10.3390/diagnostics11091583
read more
Related Content
-
What Is Mucopolysaccharidosishttps://www.onempsvoice.com/wp-content/u...
-
Barbara K. Burton, MDBarbara K Burton, MD is the Professor of...
-
Molecular Analysis of Vietnamese Patients With Mucopolysaccharidosis Type IMucopolysaccharidosis type I (MPS I) is ...
-
The Experiences and Support Needs of Siblings of People With MucopolysaccharidosisThe mucopolysaccharidoses (MPS) are a gr...
-
Emotional Responses to Diagnosis of MPS or MLIf you or someone you know have been dia...
-
Klane K. White, MD, MScKlane K. White, MD, MSc is a Pediatric O...
-
Johns Hopkins – Lysosomal Storage Disease CenterLysosomes are packets of enzymes or othe...