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

Ashlee R Stiles; Erin Huggins; Luca Fierro; Seung-Hye Jung; Manisha Balwani; Priya S Kishnani

doi:10.1016/j.ymgmr.2021.100729

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

Mol Genet Metab Rep. 2021 Feb 8:27:100729. doi: 10.1016/j.ymgmr.2021.100729. eCollection 2021 Jun.

Authors

Ashlee R Stiles^{1

2}, Erin Huggins¹, Luca Fierro³, Seung-Hye Jung¹, Manisha Balwani³, Priya S Kishnani¹

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
² Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
³ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Abstract

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.

Keywords: Glucosylsphingosine; Lyso-Gb1; Monitoring; Pediatric; Type 1 Gaucher disease; p.N409S.

Publication types

Case Reports