Mucopolysaccharides: challenges on the path to treatment

Abstract

In the growing number of metabolic diseases, the lysosomal storage diseases are a relatively small group consisting of appro ximately 60 diseases. Their subgroup, mucopolysaccharidoses (MPS), encompasses only 7 types of diseases (along with their subtypes), which, due to their pathophysiological complexity, progressive course, multiorgan extent and marked clinical heterogeneity, still represent a challenge for modern medicine. In the last ten years, a large number of patients with MPS have been involved in various treatment programs. Currently, a variety of clinical testing is being conducted just as new possible approaches to the treatment of even more specifi c biomarkers are being announced. The need for the earliest possible diagnosis has brought signifi cant simplifi cation of sending the samples to laboratories, which caused fi lter paper to replace the test tube and diagnostic methods to adapt to the tandem mass spectrometry technology (MS/MS). All these facts indicate that this subgroup of lysosomal diseases should be paid additional attention.