title: [Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].
abstract: 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.
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.
authors.forename: Juan
authors.initials: J
authors.lastname: Politei
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.
authors.forename: Andrea
authors.initials: A
authors.lastname: Schenone
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.
authors.forename: Mariana
authors.initials: M
authors.lastname: Blanco
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.
authors.forename: Marina
authors.initials: M
authors.lastname: Szlago
mesh_terms: D002648:Child; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000188:drug therapy*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use*
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase