
Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.
AIMS: To validate a liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method for the measurement of glycosaminoglycans (GAGs) in plasma and serum. To establish plasma, cerebrospinal fluid (CSF) and urine reference intervals. To compare GAGs in serum with that in urine and CSF from patients with MPS I. METHODS: Dermatan sulfate (DS), heparan sulfate (HS), and chondroitin sulfate (CS) in serum/plasma, urine and CSF were methanolysed into dimers and analyzed using pseudo isotope dilution UPLC-MS/MS assay. Serum, CSF and urine DS and HS were quantified for 11 patients with mucopolysaccharidosis (MPS) type I before and after treatment with Aldurazyme® (laronidase) enzyme replacement therapy (ERT). RESULTS: The method showed acceptable imprecision and recovery for the quantification of serum/plasma CS, DS, and HS. The serum, urine, and CSF DS and HS concentrations were reduced after 26 weeks of ERT in 4 previously untreated patients. Serum DS and HS concentrations normalized in some patients, and were mildly elevated in others after ERT. In contrast, urine and CSF DS and HS values remained elevated above the reference ranges. Compared with serum GAGs, urine and CSF DS and HS were more sensitive biomarkers for monitoring the ERT treatment of patients with MPS I.
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Related Subject Headings
- Tandem Mass Spectrometry
- Mucopolysaccharidosis I
- Humans
- Heparitin Sulfate
- Glycosaminoglycans
- General Clinical Medicine
- Enzyme Replacement Therapy
- Dermatan Sulfate
- Chromatography, Liquid
- 1103 Clinical Sciences
Citation

Published In
DOI
EISSN
Publication Date
Volume
Start / End Page
Location
Related Subject Headings
- Tandem Mass Spectrometry
- Mucopolysaccharidosis I
- Humans
- Heparitin Sulfate
- Glycosaminoglycans
- General Clinical Medicine
- Enzyme Replacement Therapy
- Dermatan Sulfate
- Chromatography, Liquid
- 1103 Clinical Sciences