Gaucher disease (GD) is a lysosomal storage disease caused by the deficiency of glucocerebrosidase characterized by a broad spectrum of clinical manifestations including hepatosplenomegaly, bone infiltration, and cytopenia, and even central nervous system involvement. Bone manifestations are typical of the GD-I and partially responded to mainstay therapy. Ambroxol (ABX), an approved cough-suppressant, was identified as an enzyme-enhancement agent of the residual activity of glucocerebrosidase mutants derived from different misfolding-mutations in the GBA gene. Here, we describe the early beneficial effects of ABX on skeletal and hematological manifestations of a child suffering with progressive GD-I.
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The authors thank the patient and her guardians to be included in this study.
This project is supported by Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant Support (20152520), Shanghai Science and Technology Committee (16JC1404600), NSFC (81570516), and National Key Research and Development Program (2016YFC0905100, 2016YFC0901505).
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The authors declare that they have no conflict of interest.
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Jiang, W., Yi, M., Maegawa, G.H.B. et al. Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. J Hum Genet 65, 345–349 (2020). https://doi.org/10.1038/s10038-019-0704-3