Mucopolysaccharidosis VI diagnosis by laboratory methods

Abstract

AbstractMucopolysaccharidosis type VI (MPS VI) results from a defect in arylsulfatase B (ARSB). There are several diagnostic methods using to identify patients; hence, we aimed to review these approaches and consider if one of them could be assigned as the gold standard method. The information of this study was obtained by searching through PubMed and Google scholar databases. In order to collect the most accurate and up to date data, we limited our research to papers in the time period between 2010 and 2017. We collected articles related to our research and extracted the most relevant and accurate data which included the steps of MPS VI diagnosis by routine laboratory approaches. We concluded that an all-inclusive diagnostic approach requires urinary glycosaminoglycan (GAG) analysis, enzyme activity analysis and molecular analysis by mutation scanning through polymerase chain reaction (PCR) and Sanger sequencing or alternative methods such as multiplex ligation-dependent probe amplification (MLPA), real-time polymerase chain reaction, array-comparative genomic hybridization (aCGH) and next generation sequencing (NGS). Reliable classification of patients with MPS VI is necessary for ongoing and future studies on treatments, outcomes and prenatal diagnoses (PNDs). The dependable characterization of patients would be achieved by biochemical techniques and enzymatic assay. However, if a molecular defect is previously identified in the family, PND via mutation scanning is possible.