PROSPECTS FOR THE DEVELOPMENT OF A DIAGNOSTIC ALGORITHM FOR THE MAIN CLINICAL SIGNS OF MUCOPOLYSACCHARIDOSIS

Abstract

Mycopolysaccharidoses are a group of rare lysosomal accumulation diseases that exhibit numerous organic and severe symptoms. Although they are relatively rare, mucopolysaccharidoses are found all over the world in various forms. The manifestation of this serious disease in childhood or the appearance in children indicates a more serious problem Early diagnosis of mucopolysaccharidosis at an asymptomatic stage can be effective for preserving organic functions and improving results. However, delayed diagnosis is common due to the latent onset of the disease and limitations of sensitive laboratory parameters [1,2,3]. As a result, it is extremely important to study new diagnostic methods based on molecular mechanisms and pathological changes caused by mucopolysaccharidoses. In this regard, the presented manuscript examines the main clinical signs specific to each type, which are most often found in the diagnosis of mucopolysaccharidosis [4,5, 6].