Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

被引：7

作者：

Herbst, Zackary M.

Hong, Xinying ^{[1
,2
]}

Urdaneta, Leslie ^{[3
]}

Klein, Terri ^{[3
]}

Waggoner, Christine ^{[4
]}

Liao, Hsuan-Chieh ^{[5
]}

Kubaski, Francyne ^{[6
]}

Giugliani, Roberto ^{[7
]}

Fuller, Maria ^{[8
,9
]}

Gelb, Michael H. ^{[1
,10
]}

机构：

[1] Univ Washington, Dept Chem, Seattle, WA 98195 USA

[2] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[3] Natl MPS Soc, POB 14686, Durham, NC 27709 USA

[4] Cure GM1 Fdn, POB 6890, Albany, CA 94706 USA

[5] Univ Washington, Dept Lab Med & Pathol, Seattle, WA 98195 USA

[6] Greenwood Genet Ctr, Biochem Genet Lab, Greenwood, SC 29646 USA

[7] Univ Fed Rio Grande, Programa Posgrad Genet & Biol Mol, Porto Alegre, RS, Brazil

[8] Univ Adelaide, Womens & Childrens Hosp, Adelaide Med Sch, Genet & Mol Pathol,SA Pathol, North Adelaide 5006, Australia

[9] Univ Adelaide, Womens & Childrens Hosp, Sch Biol Sci, SA Pathol, North Adelaide 5006, Australia

[10] Univ Washington, Dept Biochem, Seattle, WA 98195 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2023年 / 140卷 / 1-2期

基金：

美国国家卫生研究院;

关键词：

Newborn screening; Glycosaminoglycans; Mucopolysaccharidosis; GM1; gangliosidosis; Mass spectrometry; Biochemical genetics; ENZYME ASSAY; DIAGNOSIS; HUNTER; IVA;

D O I：

10.1016/j.ymgme.2023.107632

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Measurement of enzymatic activity in newborn dried blood spots (DBS) is the preferred first-tier method in newborn screening (NBS) for mucopolysaccharidoses (MPSs). Our previous publications on glycosaminoglycan (GAG) biomarker levels in DBS for mucopolysaccharidosis type 1 (MPS-I) and MPS-II demonstrated that second-tier GAG biomarker analysis can dramatically reduce the false positive rate in NBS. In the present study, we evaluate two methods for measuring GAG biomarkers in seven MPS types and GM1 gangliosidosis. We obtained newborn DBS from patients with MPS-IIIA-D,-IVA,-VI,-VII, and GM1 gangliosidosis. These samples were analyzed via two GAG mass spectrometry methods: (1) The internal disaccharide biomarker method; (2) The endogenous non-reducing end (NRE) biomarker method. This study supports the use of second-tier GAG analysis of newborn DBS by the endogenous NRE biomarker method, as part of NBS to reduce the false positive rate.

引用

页数：13

共 6 条

[1] Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results
Saville, Jennifer T.
Herbst, Zackary M.
Gelb, Michael H.
Fuller, Maria
MOLECULAR GENETICS AND METABOLISM, 2023, 140 (03)
[2] High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis
Herbst, Zackary M.
Kubaski, Francyne
Pollard, Laura
Basheeruddin, Khaja
Burton, Barbara
Orsini, Joseph
Henderson, Matthew
Chakraborty, Pranesh
Gelb, Michael H.
MOLECULAR GENETICS AND METABOLISM, 2025, 144 (02)
[3] Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses
Lawrence, Roger
Brown, Jillian R.
Al-Mafraji, Kanar
Lamanna, William C.
Beitel, James R.
Boons, Geert-Jan
Esko, Jeffrey D.
Crawford, Brett E.
NATURE CHEMICAL BIOLOGY, 2012, 8 (02) : 197 - 204
[4] Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses
Gelb, Michael H.
Herbst, Zackary M.
Fuller, Maria
MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)
[5] Diagnosis and monitoring of mucopolysaccharidoses using disease-specific non-reducing end carbohydrate biomarkers
Esko, Jeffrey D.
Lawrence, Roger
Lamanna, William C.
AL-Mafraji, Kanar
Boons, Geert-Jan
Dierks, Thomas
Brown, Jillian R.
Crawford, Brett E.
FASEB JOURNAL, 2012, 26
[6] Diagnosis and Monitoring of Mucopolysaccharidoses Using Disease-Specific Non-Reducing End Carbohydrate Biomarkers
Brown, Jillian R.
Lawrence, Roger
Al-Mafraji, Kanar
Lamanna, William C.
Beitel, James R.
Boons, Geert-Jan
Esko, Jeffrey D.
Crawford, Brett E.
MOLECULAR GENETICS AND METABOLISM, 2012, 105 (02) : S23 - S23

← 1 →