| Title: |
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I |
| Authors: |
Polo G; Gueraldi D; Giuliani A; Rubert L; Cazzorla C; Salviati L; Marzollo A; Biffi A; Burlina AP; Burlina Alberto |
| Contributors: |
Polo, G; Gueraldi, D; Giuliani, A; Rubert, L; Cazzorla, C; Salviati, L; Marzollo, A; Biffi, A; Burlina, Ap; Burlina, Alberto |
| Publisher Information: |
WALTER DE GRUYTER GMBH |
| Publication Year: |
2020 |
| Collection: |
Padua Research Archive (IRIS - Università degli Studi di Padova) |
| Subject Terms: |
dermatan sulfate; expanded newborn screening; glycosaminoglycan; heparan sulfate; LC-MS/MS; lysosomal disorder; lysosomal disorders newborn screening; mucopolysaccharidosis type I; second-tier test; tandem mass spectrometry |
| Description: |
Mucopolysaccharidosis type I (MPS I) was added to our expanded screening panel in 2015. Since then, 127,869 newborns were screened by measuring α-L-iduronidase (IDUA) enzyme activity with liquid chromatography tandem mass spectrometry (LC-MS/MS). High false positives due to frequent pseudodeficiency alleles prompted us to develop a second-tier test to quantify glycosaminoglycan (GAG) levels in dried blood spot (DBS). Heparan-sulfate (HS) and dermatan-sulfate (DS) were measured with LC-MS/MS after methanolysis. DBSs were incubated with methanolic-HCl 3 N at 65 °C for 45 min. Chromatographic separation used an amide column with a gradient of acetonitrile and water with 10 mM ammonium acetate in a 9-min run. The method was validated for specificity, linearity, lower limit of quantification (LOQ), accuracy and precision. Intra- and inter-day coefficients of variation were |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/32432561; info:eu-repo/semantics/altIdentifier/wos/WOS:000589393000017; volume:58; issue:12; firstpage:2063; lastpage:2072; journal:CLINICAL CHEMISTRY AND LABORATORY MEDICINE; https://hdl.handle.net/11577/3473086 |
| DOI: |
10.1515/cclm-2020-0064 |
| Availability: |
https://hdl.handle.net/11577/3473086; https://doi.org/10.1515/cclm-2020-0064 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.19ADA76A |
| Database: |
BASE |