introduction: mucopolysaccharidosis i (mps-i) is an autosomal recessive lysosomal storage diseases, caused by α-l-iduronidase (idua) enzyme deficiency. the clinical manifestations of mps-i patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. from when idua gene has been cloned more than 109 distinct mutations have been identified in it an...

Abstract
 Hunter syndrome is one of the Mucopolysaccharidosis (MPS), type II. It a rare genetic disorder due to deficiency in enzyme Iduronate 2-sulphatase. This leads accumulation glycosaminoglycans (GAGs) dermatan sulphate and heparan sulphate. The GAGs accumulate both intracellularly extracellularly, leading abnormalities different organ systems body. definitive diagnosis requires bioch...

Fibroblasts derived from individuals with mucopolysaccharidosis, an inborn error of metabolism, have been found to be more easily transformed by simian virus 40 than are cells derived from normal individuals. The increased susceptibility does not seem to depend upon changes in glycoprotein at the cell surface. Repeated observations were necessary to demonstrate these differences, and we do not ...

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescen...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

A 5-year-old Caucasian girl with known Hurler-Scheie's syndrome (mucopolysaccharidosis) developed a right Brown's syndrome while under orthoptic review. There was no evidence of trauma or inflammation of the superior oblique tendon, trochlea, or surrounding tissues. The Brown's syndrome in this case may be due to shortening of the superior oblique tendon, associated with the shortening of long ...

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency o...

Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G80V. We propose that MPS disorders, including MPS III-A, should be included in the differential d...