Stiles, Ashlee RHuggins, ErinFierro, LucaJung, Seung-HyeBalwani, ManishaKishnani, Priya S2023-01-032023-01-032021-062214-42692214-4269https://hdl.handle.net/10161/26420Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation.GlucosylsphingosineLyso-Gb1MonitoringPediatricType 1 Gaucher diseasep.N409SJournal article2023-01-03