title: Mucopolysaccharidoses type II: enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients.
abstract: Five patients presenting Hunter's syndrome were biochemically studied. Quantification of urinary glycosaminoglycans (GAGs), electrophoretic characterization and correlation with enzymatic activity in leucocytes were carried out. In all cases, urinary GAGs/creatinine ratio was increased. Electrophoresis revealed the presence of heparan sulfate (HS) and dermatan sulfate (DS) in four cases (80%), but in the remaining patient, only DS was present. In all patients, deficient enzymatic activity was demonstrated. These results show evidences of biochemical differences in this syndrome.
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., México.
authors.forename: M P
authors.initials: MP
authors.lastname: Gallegos-Arreola
authors.forename: A
authors.initials: A
authors.lastname: González-Noriega
authors.forename: G M
authors.initials: GM
authors.lastname: Zúñiga-González
authors.forename: S E
authors.initials: SE
authors.lastname: Flores-Martínez
authors.forename: M C
authors.initials: MC
authors.lastname: Morán Moguel
authors.forename: L E
authors.initials: LE
authors.lastname: Figuera
authors.forename: J
authors.initials: J
authors.lastname: Sánchez-Corona
mesh_terms: D002648:Child; D002675:Child, Preschool; D003871:Dermatan Sulfate / Q000652:urine; D004588:Electrophoresis, Cellulose Acetate; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006025:Glycosaminoglycans / Q000652:urine*; D006497:Heparan Sulfate / Q000652:urine; D006801:Humans; D007066:Iduronate Sulfatase / Q000097:blood; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000378:metabolism* / Q000652:urine; D010641:Phenotype; D012680:Sensitivity and Specificity
chemical_list: D003871:Dermatan Sulfate; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D007066:Iduronate Sulfatase