Abstract
Fabry disease is caused by a deficiency of α-galactosidase A which leads to the progressive intra-lysosomal accumulation of ceramide trihexoside (CTH), also known as globotriaosylceramide (Gb3), in different cell types and body fluids. The clinical manifestations are multisystemic and predominantly affect the heart, kidney and central nervous system. The role of CTH in the pathophysiological process of Fabry disease is not established, and the link between the degree of accumulation and disease manifestations is not systematic. The use of CTH as a diagnostic tool has been proposed for several decades. The recent introduction of a specific treatment for Fabry disease in the form of enzyme replacement therapy (ERT) has led to the need for a biological marker, in place of a clinical sign, for evaluating the efficacy of treatment and also as a tool for following the long term effects of treatment. The ideal biomarker must adhere to strict criteria, and there should be a correlation between the degree of clinical efficacy of treatment and a change in its concentration. This review of the literature assesses the utility of CTH as a diagnostic tool and as a marker of the efficacy of ERT in patients with Fabry disease. Several techniques have been developed for measuring CTH; the principles and the sensitivity thresholds of these methods and the units used to express the results should be taken into consideration when interpreting data. The use of CTH measurement in Fabry disease should be re-evaluated in light of recent published data.
Keywords: Fabry disease, ceramide trihexoside, globotriaosylceramide, Gb3, biomarker, diagnosis, clinical monitoring
Cardiovascular & Hematological Agents in Medicinal Chemistry
Title: The Role of Ceramide Trihexoside (Globotriaosylceramide) in the Diagnosis and Follow-Up of the Efficacy of Treatment of Fabry Disease: A Review of the Literature
Volume: 4 Issue: 4
Author(s): Soumeya Bekri, Olivier Lidove, Roland Jaussaud, Bertrand Knebelmann and Frederic Barbey
Affiliation:
Keywords: Fabry disease, ceramide trihexoside, globotriaosylceramide, Gb3, biomarker, diagnosis, clinical monitoring
Abstract: Fabry disease is caused by a deficiency of α-galactosidase A which leads to the progressive intra-lysosomal accumulation of ceramide trihexoside (CTH), also known as globotriaosylceramide (Gb3), in different cell types and body fluids. The clinical manifestations are multisystemic and predominantly affect the heart, kidney and central nervous system. The role of CTH in the pathophysiological process of Fabry disease is not established, and the link between the degree of accumulation and disease manifestations is not systematic. The use of CTH as a diagnostic tool has been proposed for several decades. The recent introduction of a specific treatment for Fabry disease in the form of enzyme replacement therapy (ERT) has led to the need for a biological marker, in place of a clinical sign, for evaluating the efficacy of treatment and also as a tool for following the long term effects of treatment. The ideal biomarker must adhere to strict criteria, and there should be a correlation between the degree of clinical efficacy of treatment and a change in its concentration. This review of the literature assesses the utility of CTH as a diagnostic tool and as a marker of the efficacy of ERT in patients with Fabry disease. Several techniques have been developed for measuring CTH; the principles and the sensitivity thresholds of these methods and the units used to express the results should be taken into consideration when interpreting data. The use of CTH measurement in Fabry disease should be re-evaluated in light of recent published data.
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Cite this article as:
Bekri Soumeya, Lidove Olivier, Jaussaud Roland, Knebelmann Bertrand and Barbey Frederic, The Role of Ceramide Trihexoside (Globotriaosylceramide) in the Diagnosis and Follow-Up of the Efficacy of Treatment of Fabry Disease: A Review of the Literature, Cardiovascular & Hematological Agents in Medicinal Chemistry 2006; 4 (4) . https://dx.doi.org/10.2174/187152506778520718
DOI https://dx.doi.org/10.2174/187152506778520718 |
Print ISSN 1871-5257 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6182 |
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