Resumen

POLITEI, Juan; SCHENONE, Andrea; BLANCO, Mariana  y  SZLAGO, Marina. Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy. Arch. argent. pediatr. [online]. 2014, vol.112, n.3, pp.258-262. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2014.258.

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease associated with a deficiency or absence of arylsulfatase B leading to the abnormal accumulation of dermatan sulfate. MPS VI shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic spectrum includes skeletal displasia, coarse facies, cardiomyopathy, pulmonary complications and spinal compression. Diagnosis generally requires measurement ofurinary glycosaminoglycans and arylsulfatase B enzyme activity in dried blood spot, leukocytes or cultured fibroblasts. Enzyme replacement therapy (ERT) with galsulfase is now widely available providing improvement in skeletal performance and stabilization in pulmonary and cardiac functioning. Spinal involvement does not respond to ERT when is present, surgical decompression should be indicated early. Prognosis is variable depending on the age of onset and age at initiation of ERT.

Palabras clave : mucopolysaccharidosis VI; galsulfase; Maroteaux- Lamy; enzyme replacement therapy.

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