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.

how to cite this article: alaee mr. mucopolysaccharidosis type 1. iran j child neurol autumn 2012; 6:4(suppl. 1):5. pls see  pdf.

how to cite this article: imanzadeh f. gastrointestinal symptoms in lysosmal disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):17-18. pls see pdf.   references: 1. semenza  gl,  pyeritz  re.  respiratory complications of mucopolysaccharide storage disorders. medicine (baltimore) 1988; 67:209. 2.   wraith   je,   scarpa   m,   beck   m,   et   al. mucopolysaccharidosis type ii (hunter syn...

OBJECTIVE Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients. PATIENTS AND METHODS The natural course of mu...

+Pg Resident, *Head of unit, **assistant Professor, Dept. of Medicine, grant Medical College and sir J.J. group of Hospitals, Mumbai. Received: 01.10.2011; Revised: 16.07.2012; Re-revised: 03.12.2012; accepted: 11.01.2013 Abstract Introduction : We present a very rare case of mucopolysaccharidosis type II (Hunter syndrome). which presented as short stature, coarse facies, mild mental retardatio...

We have characterized a new mutant mouse that has virtually no /-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; fl-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the fl-glucuron...