Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
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.
Duffey
Trisha A
TA
Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
Khaliq
Tanvir
T
Scott
C Ronald
CR
Turecek
Frantisek
F
Gelb
Michael H
MH
D006801:Humans; D007231:Infant, Newborn; D009005:Monosaccharides / Q000138:chemical synthesis / Q000737:chemistry* / Q000378:metabolism*; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000201:enzymology*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000201:enzymology*; D015997:Neonatal Screening / Q000379:methods*; D013379:Substrate Specificity; D013431:Sulfates / Q000138:chemical synthesis / Q000737:chemistry; D053719:Tandem Mass Spectrometry / Q000379:methods
D009005:Monosaccharides; D013431:Sulfates