Treatment of mucopolysaccharidoses

Mucopolysaccharidoses are rare inherited metabolic diseases that have patologic manifestations in most organ systems. They are caused by deficiency of lysosomal enzymes that degrade glycosaminoglycans leading to their accumulation in lysosomes and resulting in cell, tissue and organ dysfunctions. Eleven types and subtypes of these diseases have been described according to the particular enzyme deficit. Clinical presentation has many similarities, and in most types includes coarse face, bone deformities, joint stiffness, upper airway obstruction, hepatomegaly, splenomegaly, valvular disease, hearing and vision loss, developmental delay, mental retardation, etc. It is important to recognize the disease on time so that the correct treatment can be started. Early treatment can either postpone or prevent progression depending on the type of mucopolysaccharidosis. Supportive and symptomatic management with particular attention to the treatment of respiratory and cardiovascular complications, skeletal and joint manifestations, loss of hearing and vision, gastrointestinal symptoms, and hydrocephalus is of great importance and may improve the quality of life for affected individuals and their families. Bone marrow can be significantly beneficial in some types of mucopolysaccharidoses. Enzyme replacement therapy is new way to treat type I. This treatment may result in clinical and biochemical improvement, but it still has to be evaluated. Similar therapy is in the phase of clinical trials for types II and VI.
Category: Review
Volume: Vol. 49, No 3, july - september 2005
Authors: D. Petković, I. Barić
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