Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or deficiency of the lysosomal enzymes that are needed for breaking down glycosaminoglycans (GAGs). Over time, GAGs collect in cells, blood and connective tissues, and increased amounts are excreted in the urine. The result is permanent and includes progressive cell damage that affects the individual's appea...

background: mucopolysaccharidosis type-vi (mps-vi), which is inherited as an autosomal recessive trait, results from the deficiency of n-acetylgalactosamine 4-sulfatase (arylsulfatase b) activity and the lysosomal accumulation of dermatan sulfate. in this study, arsb mutation analysis was performed on three unrelated patients who were originally from the west azerbaijan province of iran. method...

Background: Mucopolysaccharidosis type III (MPS III) is the of mucopolysaccharidosis that has fewer systemic signs and symptoms, however, it most severe neurological impairment. There are four types MPS III, determined by mutation in gene responsible for enzyme becomes deficient degrading intracellular glycosaminoglycan, which clinical picture.

BACKGROUND Serum heparin cofactor II-thrombin complex (HCII-T) is an emerging biomarker for mucopolysaccharidosis disease (MPS I and MPS II). METHODS Seventeen cases (6 MPS I and 11 MPS II) and sixty healthy controls were enrolled in study, conducted from September 2008 to December 2012. The mean ± SD age of MPS1 (n=6, 5 males) and MPS II was 7.02 ± 3.25 and 5.2 ± 2.15 years, respectively. Di...