The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

作者：Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung‐Hye Jung, Manisha Balwani, Priya S. Kishnani · 发表于：Molecular Genetics and Metabolism Reports · 年份：2021 · DOI：10.1016/j.ymgmr.2021.100729 · 被引用次数：16 · 研究领域：Lysosomal Storage Disorders Research、Carbohydrate Chemistry and Synthesis、Cellular transport and secretion

Gaucher 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.