Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia

摘要

This article contains information related to a recent study “Selective screening for detection of mucopolysaccharidoses (MPS) in Malaysia; A Two-year Study” Affandi et?al., 2019. Any patient registered under government healthcare facilities in Malaysia and fit at least two inclusion criteria were included in this selective screening. Urine and blood from these high risk patients were obtained and analysed for glycosaminoglycans (GAGs) level before characterization using high resolution electrophoresis (HRE). Thereafter, enzyme assay for different types of MPS based on result of HRE were determined using specific substrate. Demographic data as well as laboratory findings were tabulated and analysed. The data of this study demonstrate between clinical presentation and laboratory findings among high risk patients of MPS and can be employed to improve diagnosis of MPS.