Types of mucopolysaccharidoses and their treatment
Mucopolysaccharidoses are a group of rare, progressive lysosomal storage diseases affecting approximately 1 in 25 000 individuals. They are caused by absence or deficiency of lysosomal enzymes needed for breaking down glycosaminoglycans (GAGs). Partly degraded GAGs accumulate in most cells and extracellular tissue and are excreted in urine in large amounts. Clinical manifestations of these diseases are complex and vary from serious conditions with fatal outcome in the first months or years of life to mild forms that cause minor medical problems and are compatible with a normal lifespan. Common features of patients with mucopolysaccharidoses include facial dysmorphism, organomegaly, joint stiffness and contractures, cardiomyopathy, valvular dysfunction, respiratory problems and, in some cases, neurologic involvement. New treatment options including bone marrow transplantation and enzyme replacement therapy for mucopolysaccharidosis type I, II and VI have resulted in an improved prognosis for many of the patients. To avoid irreversible tissue damage, an early diagnosis and initiation of therapy is of utmost importance
Key words:
bone marrow transplantation; drug therapy; lysosomal storage diseases; mucopolysaccharidoses
OGLASI
