Abstract
Lysosomal storage disorders (LSDs) are a group of >50 different types of inherited metabolic disorders that result from defects in the lysosome. The aim of this study was to investigate the distribution and demographic characteristics of the different subtypes of LSDs in Eastern China. From 2006 to 2012, 376 out of 1331 clinically suspected patients were diagnosed with 17 different subtypes of LSDs at our hospital. Mucopolysaccharidoses (MPS) were the most common group of LSDs (50.5%), followed by sphingolipidoses (25.4%) and Pompe disease (19.8%). Mucolipidosis type II/III accounted for the remaining 4% of diagnosed LSDs. MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%). Gaucher disease and Niemann–Pick disease type A/B were the two most common forms of sphingolipidoses. There was a large variation in the time between disease onset and eventual diagnosis, from 0.3 years in infantile-onset Pompe disease to 30 years in Fabry disease, highlighting timely and accurate diagnosis of LSDs as the main challenge in China.
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Acknowledgements
This work was supported by the National Key Technology R&D Program (2012BAI09B04), and the National Natural Science Foundation of China (81270936, 81570516). Writing assistance was provided by Kee Chung Low, from AMICULUM Singapore, funded by BioMarin. Informed consent: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.
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Chen, X., Qiu, W., Ye, J. et al. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China. J Hum Genet 61, 345–349 (2016). https://doi.org/10.1038/jhg.2015.155
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DOI: https://doi.org/10.1038/jhg.2015.155
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