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

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
• Type 1 Gaucher disease
• Pediatric
• p.N409S
• Monitoring