Sindrome de maroteaux lamy pdf

Mucopolysaccharidosis type vi mps vi, also known as maroteauxlamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. A deficiency of nacetylgalactosamine4sulphatase g4s, gene symbol arsb, results in the accumulation of undegraded substrate and the lysosomal storage disorder, maroteaux lamy syndrome. Maroteaux lamy syndrome is an autosomal recessive disease caused by deficiency of the lysosomal enzyme nacetylgalactosamine 4sulfatase arylsulfatase b which is involved in glycosaminoglycan gag degradation 1, 2. Mps vi is characterized by somatic features but not by mental retardation.

Maroteauxlamy syndrome mucopolysaccharidosis type vi. Mucopolysaccharidosis type vi maroteauxlamy syndrome in the. Mps vi is a rare genetic disorder characterized by complete or partial lack of activity of the. Sf36 survey results maroteauxlamysyndrom maroteaux. Mucopolysaccharidosis type vi maroteauxlamy syndrome in. Skeletal abnormalities are also common in this condition. Sindrome maroteauxlamy mucopolisacaridosis tipo vi. Media in category maroteauxlamy syndrome the following 3 files are in this category, out of 3 total. Mucopolysaccharidosis type vi maroteauxlamy syndrome in the precolumbian culture of colombia. Mucopolysaccharidosis type vi or maroteaux lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase b, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. The rate at which symptoms worsen varies among affected individuals.