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Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

ABSTRACT: A considerable need exists for improved biomarkers for differential diagnosis, prognosis and monitoring of therapeutic interventions for mucopolysaccharidoses (MPS), inherited metabolic disorders that involve lysosomal storage of glycosaminoglycans. Here we report a simple, reliable method based on the detection of abundant nonreducing ends of the glycosaminoglycans that accumulate in cells, blood and urine of individuals with MPS. In this method, glycosaminoglycans are enzymatically depolymerized, releasing unique mono-, di- or trisaccharides from the nonreducing ends of the chains. The composition of the released mono- and oligosaccharides depends on the nature of the lysosomal enzyme deficiency, and therefore they serve as diagnostic biomarkers. Analysis by LC/MS allowed qualitative and quantitative assessment of the biomarkers in biological samples. We provide a simple conceptual scheme for diagnosing MPS in uncharacterized samples and a method to monitor efficacy of enzyme replacement therapy or other forms of treatment.

SUBMITTER: Lawrence R

PROVIDER: S-EPMC3262053 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Lawrence Roger R Brown Jillian R JR Al-Mafraji Kanar K Lamanna William C WC Beitel James R JR Boons Geert-Jan GJ Esko Jeffrey D JD Crawford Brett E BE

Nature chemical biology 20120108 2

A considerable need exists for improved biomarkers for differential diagnosis, prognosis and monitoring of therapeutic interventions for mucopolysaccharidoses (MPS), inherited metabolic disorders that involve lysosomal storage of glycosaminoglycans. Here we report a simple, reliable method based on the detection of abundant nonreducing ends of the glycosaminoglycans that accumulate in cells, blood and urine of individuals with MPS. In this method, glycosaminoglycans are enzymatically depolymeriz ...[more]

PMID: 22231271

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Dataset Information

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Publications

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

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