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.
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Authors | M P Gallegos-Arreola, A González-Noriega, G M Zúñiga-González, S E Flores-Martínez, M C Morán Moguel, L E Figuera, J Sánchez-Corona |
Journal | Archives of medical research
(Arch Med Res)
Vol. 28
Issue 1
Pg. 91-4
( 1997)
ISSN: 0188-4409 [Print] United States |
PMID | 9078594
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Glycosaminoglycans
- Dermatan Sulfate
- Heparitin Sulfate
- Iduronate Sulfatase
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Topics |
- Child
- Child, Preschool
- Dermatan Sulfate
(urine)
- Electrophoresis, Cellulose Acetate
- Genetic Carrier Screening
- Genetic Testing
- Glycosaminoglycans
(urine)
- Heparitin Sulfate
(urine)
- Humans
- Iduronate Sulfatase
(blood)
- Leukocytes
(enzymology)
- Male
- Mucopolysaccharidosis II
(enzymology, metabolism, urine)
- Phenotype
- Sensitivity and Specificity
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