Newborn screening of mucopolysaccharidosis II (Hunter syndrome) and VI (Maroteaux-Lamy syndrome) using flow injection tandem mass spectrometry and newly developed reagents

Abstract

sulfatides can be monitored both in positive and negative ion mode although with different sensitivity. Fragment ions in both ion modes are independent of the sulfatide acyl chain length and thus suitable for sulfatide profiling using selected reaction monitoring (SRM). We collected urine and blood samples from confirmed MLD patients and analyzed them in parallel. Our results show clearly that accumulation of sulfatide species in dried urine spots allows for the detection of MLD. Dried blood spots are probably not suitable for newborn screening or diagnosis since sulfatide levels were barely detectable and elevated in only a subset of MLD samples.