Síndrome de Morquio: uma revisão bibliográfica

Abstract

Mucopolysaccharidosis are a group of rare disease prevalence, characterized in that there is deficiency in the production of enzymes involved in the metabolic degradation of glycosaminoglycans lysosomal level. The accumulation of these intracellular substances causes various clinical manifestations. The increase in intracellular glycosaminoglycan, caused by deficiency of the enzyme N-acetyl galactosamine-6-sulfatase causing Morquio syndrome type A, and type B is caused by a deficiency of beta-galactosidase. This syndrome brings as a consequence skeletal disorders, muscle and heart, thus impairing the physical and motor carrier without occurring psychiatric disorders. Diagnosis is made through a queratosulfato the dosage taken by urinalysis. Treatment is palliative, i.e., sãotratados only the symptoms that arise through the years. Is currently testing the treatment of enzyme replacement by Vimizim drug (elosulfase alpha) .The aim of this study is to conduct a literature review in order to promote specific and detailed knowledge regarding the clinical course of mucopolysaccharidosis VI, taking into consideraçãoa importance of early diagnosis, and discusses the evolution of therapeutic management. For this work become feasible readings and analyzes were performed of scientific papers, theses and dissertations.