PMID- 33123640
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230913
IS  - 2409-515X (Electronic)
IS  - 2409-515X (Linking)
VI  - 6
IP  - 3
DP  - 2020 Sep
TI  - Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers 
      in Newborn Dried Blood Spots from Patients with Severe and Attenuated 
      Mucopolysaccharidosis-I.
PG  - 69
LID - 10.3390/ijns6030069 [doi]
LID - 69
AB  - All newborn screening (NBS) for mucopolysaccharidosis-I (MPS-I) is carried out by 
      the measurement of alpha-iduronidase (IDUA) enzymatic activity in dried blood spots 
      (DBS). The majority of low enzyme results are due to pseudodeficiencies, and 
      studies from the Mayo Clinic have shown that the false positive rate can be 
      greatly reduced by including a second-tier analysis of glycosaminoglycans (GAGs) 
      in DBS as part of NBS. In the present study, we obtained newborn DBS from 13 
      patients with severe MPS-I and 2 with attenuated phenotypes. These samples were 
      submitted to four different GAG mass spectrometry analyses in a comparative 
      study: (1) internal disaccharide; (2) endogenous disaccharide; (3) Sensi-Pro; (4) 
      Sensi-Pro Lite (a variation of Sensi-Pro with a simplified workflow). Patients 
      with attenuated MPS-I show less GAG elevation than those with severe disease, and 
      all MPS-I patients were separated from the reference range using all four 
      methods. The minimal differential factor (lowest GAG marker level in MPS-I 
      samples divided by highest level in the reference range of 30 random newborns) 
      was about two for internal disaccharide, Sensi-Pro, and Sensi-Pro Lite methods. 
      The endogenous disaccharide was clearly the best method with a minimal 
      differential of 16-fold. This study supports use of second-tier GAG analysis of 
      newborn DBS, especially the endogenous disaccharide method, as part of NBS to 
      reduce the false positive rate.
CI  - (c) 2020 by the authors.
FAU - Herbst, Zackary M
AU  - Herbst ZM
AUID- ORCID: 0000-0002-0097-4222
AD  - Department of Chemistry, University of Washington, Seattle, WA 98195, USA; 
      zherbst@uw.edu.
FAU - Urdaneta, Leslie
AU  - Urdaneta L
AUID- ORCID: 0000-0003-1978-0855
AD  - National MPS Society, P.O. Box 14686, Durham, NC 27707-4686, USA; 
      leslie@mpssociety.org (L.U.); terri@mpssociety.org (T.K.).
FAU - Klein, Terri
AU  - Klein T
AD  - National MPS Society, P.O. Box 14686, Durham, NC 27707-4686, USA; 
      leslie@mpssociety.org (L.U.); terri@mpssociety.org (T.K.).
FAU - Fuller, Maria
AU  - Fuller M
AUID- ORCID: 0000-0001-9092-8942
AD  - Genetics and Molecular Pathology, SA Pathology at Women's and Children's 
      Hospital, North Adelaide 5006, Australia; maria.fuller@adelaide.edu.au.
AD  - School of Medicine, University of Adelaide, Adelaide 5005, Australia.
FAU - Gelb, Michael H
AU  - Gelb MH
AD  - Department of Chemistry, University of Washington, Seattle, WA 98195, USA; 
      zherbst@uw.edu.
AD  - Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.
LA  - eng
GR  - R01 DK067859/DK/NIDDK NIH HHS/United States
PT  - Journal Article
DEP - 20200826
PL  - Switzerland
TA  - Int J Neonatal Screen
JT  - International journal of neonatal screening
JID - 101665400
PMC - PMC7570209
OTO - NOTNLM
OT  - biochemical genetics
OT  - glycosaminoglycans
OT  - hurler syndrome
OT  - mass spectrometry
OT  - mucopolysaccharidosis
OT  - newborn screening
OT  - scheie syndrome
COIS- Conflicts of InterestM.H.G. is a consultant for PerkinElmer Corp. and a 
      co-founder of GelbChem LLC. Z.M.H. is a consultant for GelbChem LLC. The other 
      authors declare no conflict of interest. The funders had no role in the design of 
      the study; in the collection, analyses, or interpretation of data; in the writing 
      of the manuscript, or in the decision to publish the results.
EDAT- 2020/10/31 06:00
MHDA- 2020/10/31 06:01
PMCR- 2020/08/26
CRDT- 2020/10/30 05:56
PHST- 2020/07/20 00:00 [received]
PHST- 2020/08/19 00:00 [accepted]
PHST- 2020/10/30 05:56 [entrez]
PHST- 2020/10/31 06:00 [pubmed]
PHST- 2020/10/31 06:01 [medline]
PHST- 2020/08/26 00:00 [pmc-release]
AID - IJNS-06-00069 [pii]
AID - 10.3390/ijns6030069 [doi]
PST - epublish
SO  - Int J Neonatal Screen. 2020 Aug 26;6(3):69. doi: 10.3390/ijns6030069. eCollection 
      2020 Sep.