Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy

The chapter focuses on the relative importance of issues involving the early detection and treatment of mucopolysaccharidoses (MPS) patients, to list enzymatic and molecular genetic methods, to provide comment about potential false-positive or negative results, future options for prenatal diagnosis of the MPS, and to suggest technical advances likely to be routinely applied to the prenatal diagnosis of the MPS. It tabulates the biochemical and molecular genetic characteristics of the 12 known MPS. Further, with the introduction of effective treatments for the MPS, there is increasing urgency for the development of methods and disease biomarkers to enable early detection (newborn screening), prognostics and monitoring of treatment in asymptomatic MPS patients. Finally, the chapter attempts to identify new technologies and concepts that are in development and likely to influence the future options in MPS management.