NI-CHUNG LEEYIN-HSIU CHIENWang, Chung HsingChung HsingWangWong, Siew LeeSiew LeeWongSTEVEN SHINN-FORNG PENGTsai, Fuu JenFuu JenTsaiWUH-LIANG ​​HWU2022-05-172022-05-172022-06-0122144269https://scholars.lib.ntu.edu.tw/handle/123456789/611147Patients with Gaucher disease type 3 (GD3), especially those with GBA p.L444P homozygous mutation, often suffer from complications including lymphadenopathy even under regular enzyme replacement therapy (ERT). In order to improve their outcome, we administrated eliglustat, a substrate reduction therapy (SRT), in combination with ERT to four patients, age ranged 9–18 years, for two years. The results revealed that patients' plasma glucosylsphingosine (lyso-GL1) level and chitotriosidase activity both decreased after adding eliglustat. In three patients who completed follow-up MRI scanning, sizes of lymph nodes all decreased. No severe adverse events were attributed to eliglustat. Therefore, our data suggest that a combined SRT and ERT treatment may improve the ERT-resistant symptoms in patients with GD3.Eliglustat | Gaucher disease | Substrate reduction therapy[SDGs]SDG3journal article10.1016/j.ymgmr.2022.1008672-s2.0-85128499974https://scholars.lib.ntu.edu.tw/handle/123456789/611036