Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes

被引：20

作者：

Duffey, Trisha A. ^{[1
]}

Khaliq, Tanvir ^{[1
]}

Scott, C. Ronald ^{[2
]}

Turecek, Frantisek ^{[1
]}

Gelb, Michael H. ^{[1
,3
]}

机构：

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

[2] Univ Washington, Dept Med, Seattle, WA 98195 USA

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

来源：

BIOORGANIC & MEDICINAL CHEMISTRY LETTERS | 2010年 / 20卷 / 20期

关键词：

Lysosomal storage disease; Newborn screening; Tandem mass spectrometry; Enzyme assay; Clinical chemistry; TANDEM MASS-SPECTROMETRY; DRIED BLOOD SPOTS; DIRECT ASSAY; DEFICIENCY; SULFATE; ENZYMES; DISEASE;

D O I：

10.1016/j.bmcl.2010.08.080

中图分类号：

R914 [药物化学];

学科分类号：

100701 ;

摘要：

In continued efforts to develop enzymatic assays for lysosomal storage diseases appropriate for newborn screening laboratories we have synthesized novel and specific enzyme substrates for Maroteaux-Lamy (MPS VI) and Morquio A (MPS IVA) diseases. The sulfated monosaccharide derivatives were found to be converted to product by the respective enzyme in blood from healthy patients but not by blood from patients with the relevant lysosomal storage disease. The latter result shows that the designed substrates are highly selective for the respective enzymes. (c) 2010 Elsevier Ltd. All rights reserved.

引用

页码：5994 / 5996

页数：3

共 8 条

[1] Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I [J].