Mucopolysaccharidoses type II: enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients.
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.
Gallegos-Arreola
M P
MP
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., México.
González-Noriega
A
A
Zúñiga-González
G M
GM
Flores-Martínez
S E
SE
Morán Moguel
M C
MC
Figuera
L E
LE
Sánchez-Corona
J
J
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
D003871:Dermatan Sulfate; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D007066:Iduronate Sulfatase