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

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• 作者：Trisha A. Duffey ; Tanvir Khaliq ; C. Ronald Scott ; Frantisek Turecek ; Michael H. Gelb
• 关键词：Lysosomal storage disease ; Newborn screening ; Tandem mass spectrometry ; Enzyme assay ; Clinical chemistry
• 刊名：Bioorganic and Medicinal Chemistry Letters
• 出版年：2010
• 出版时间：15 October 2010
• 年：2010
• 卷：20
• 期：20
• 页码：5994-5996
• 全文大小：325 K

文摘

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.