Lysosomal storage diseases as a complex pathophysiological and clinical problem - part one

Abstract

Lysosomal storage diseases (LSDs) are a group of rare genetic diseases that are characterized by the accumulation of undecomposed molecules in lysosomes due to deficits in specific enzymes. One of the most common subtypes of LSDs is mucopolysaccharidoses (MPS), in which there is an accumulation of glycosaminoglycans (GAGs) in cells. These molecules have important functions in mammalian organisms, including being the building blocks of connective tissue and participating in numerous cellular processes. Their accumulation causes numerous clinical manifestations, particularly evident in the nervous, skeletal or cardiovascular systems. The following article discusses the pathophysiology and clinical picture of MPS. Emphasis is placed on the heterogeneity of clinical manifestations, which can vary depending on the subtype of the disease, significantly complicating the diagnostic process.  In turn, early diagnosis is crucial for the implementation of treatment, which can significantly improve the quality and length of life of patients.