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      Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

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          Abstract

          A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.

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          Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue.

          C de Duve, B C Pressman, R GIANETTO … (1955)
          Article 0 comments Cited 246 times – based on 0 reviews     Review now
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            Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

            R Schiffmann, J. B. Kopp, H Austin … (2001)
            Fabry disease is a metabolic disorder without a specific treatment, caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease. To evaluate the safety and efficacy of intravenous alpha-gal A for Fabry disease. Double-blind placebo-controlled trial conducted from December 1998 to August 1999 at the Clinical Research Center of the National Institutes of Health. Twenty-six hemizygous male patients, aged 18 years or older, with Fabry disease that was confirmed by alpha-gal A assay. A dosage of 0.2 mg/kg of alpha-gal A, administered intravenously every other week (12 doses total). Effect of therapy on neuropathic pain while without neuropathic pain medications measured by question 3 of the Brief Pain Inventory (BPI). Mean (SE) BPI neuropathic pain severity score declined from 6.2 (0.46) to 4.3 (0.73) in patients treated with alpha-gal A vs no significant change in the placebo group (P =.02). Pain-related quality of life declined from 3.2 (0.55) to 2.1 (0.56) for patients receiving alpha-gal A vs 4.8 (0.59) to 4.2 (0.74) for placebo (P =.05). In the kidney, glomeruli with mesangial widening decreased by a mean of 12.5% for patients receiving alpha-gal vs a 16.5% increase for placebo (P =.01). Mean inulin clearance decreased by 6.2 mL/min for patients receiving alpha-gal A vs 19.5 mL/min for placebo (P =.19). Mean creatinine clearance increased by 2.1 mL/min (0.4 mL/s) for patients receiving alpha-gal A vs a decrease of 16.1 mL/min (0.3 mL/s) for placebo (P =.02). In patients treated with alpha-gal A, there was an approximately 50% reduction in plasma glycosphingolipid levels, a significant improvement in cardiac conduction, and a significant increase in body weight. Intravenous infusions of alpha-gal A are safe and have widespread therapeutic efficacy in Fabry disease.
            Article 0 comments Cited 200 times – based on 0 reviews     Review now
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              Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.

              N Barton, R O Brady, J Dambrosia … (1991)
              Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of the enzyme glucocerebrosidase (glucosylceramidase). Enzyme replacement was proposed as a therapeutic strategy for this disorder in 1966. To assess the clinical effectiveness of this approach, we infused macrophage-targeted human placental glucocerebrosidase (60 IU per kilogram of body weight every 2 weeks for 9 to 12 months) into 12 patients with type 1 Gaucher's disease who had intact spleens. The frequency of infusions was increased to once a week in two patients (children) during part of the trial because they had clinically aggressive disease. The hemoglobin concentration increased in all 12 patients, and the platelet count in 7. Serum acid phosphatase activity decreased in 10 patients during the trial, and the plasma glucocerebroside level in 9. Splenic volume decreased in all patients after six months of treatment, and hepatic volume in five. Early signs of skeletal improvements were seen in three patients. The enzyme infusions were well tolerated, and no antibody to the exogenous enzyme developed. Intravenous administration of macrophage-targeted glucocerebrosidase produces objective clinical improvement in patients with type 1 Gaucher's disease. The hematologic and visceral responses to enzyme replacement develop more rapidly than the skeletal response.
              Article 0 comments Cited 180 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                : +31-020-566516 , j.m.aerts@amc.uva.nl
                Journal
                Journal ID (nlm-ta): J Inherit Metab Dis
                Title: Journal of Inherited Metabolic Disease
                Publisher: Springer Netherlands (Dordrecht )
                ISSN (Print): 0141-8955
                ISSN (Electronic): 1573-2665
                Publication date (Electronic): 29 March 2011
                Publication date PMC-release: 29 March 2011
                Publication date (Print): June 2011
                Volume: 34
                Issue: 3
                Pages: 605-619
                Affiliations
                [1 ]Sphinx-Amsterdam Lysosome Center, Departments of Medical Biochemistry and Internal Medicine, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
                [2 ]Department of Bio-organic Synthesis, Leiden Institute for Chemistry, Leiden University, Leiden, The Netherlands
                Author notes

                Communicated by: Ed Wraith

                Article
                Publisher ID: 9308
                DOI: 10.1007/s10545-011-9308-6
                PMC ID: 3109260
                PubMed ID: 21445610
                SO-VID: 7db63f8a-d84e-4c58-bf14-910bcdcc04ee
                Copyright © © The Author(s) 2011
                History
                Date received : 21 December 2010
                Date revision received : 21 January 2011
                Date accepted : 17 February 2011
                Categories
                Subject: SSIEM Symposium 2010
                Custom metadata
                issue-copyright-statement © SSIEM and Springer 2011

                ScienceOpen disciplines: Internal medicine
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                ScienceOpen disciplines: Internal medicine

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